There is now some evidence that chronic fatigue syndrome is accompanied by an activation of the inflammatory response system and by increased oxidative and nitrosative stress. Nuclear factor kappa beta (NFkappabeta) is the major upstream, intracellular mechanism which regulates inflammatory and oxidative stress mediators. In order to examine the role of NFkappabeta in the pathophysiology of CFS, this study examines the production of NFkappabeta p50 in unstimulated, 10 ng/mL TNF-alpha (tumor necrosis factor alpha) and 50 ng/mL PMA (phorbolmyristate acetate) stimulated peripheral blood lymphocytes of 18 unmedicated patients with CFS and 18 age-sex matched controls. The unstimulated (F=19.4, df=1/34, p=0.0002), TNF-alpha-(F=14.0, df=1/34, p=0.0009) and PMA-(F=7.9, df=1/34, p=0.008) stimulated production of NFkappabeta were significantly higher in CFS patients than in controls. There were significant and positive correlations between the production of NFkappabeta and the severity of illness as measured with the FibroFatigue scale and with symptoms, such as aches and pain, muscular tension, fatigue, irritability, sadness, and the subjective feeling of infection. The results show that an intracellular inflammatory response in the white blood cells plays an important role in the pathophysiology of CFS and that previous findings on increased oxidative stress and inflammation in CFS may be attributed to an increased production of NFkappabeta. The results suggest that the symptoms of CFS, such as fatigue, muscular tension, depressive symptoms and the feeling of infection reflect a genuine inflammatory response in those patients. It is suggested that CFS patients should be treated with antioxidants, which inhibit the production of NFkappabeta, such as curcumin, N-Acetyl-Cysteine, quercitin, silimarin, lipoic acid and omega-3 fatty acids.

Kounis syndrome is potentially a life-threatening medical emergency with both a severe allergic reaction and acute coronary syndrome. Most of the information about this syndrome has come from the case reports. The management of these patients may be challenging for clinicians, and unfortunately guidelines have not been established yet. In this article, we review the current guidelines of acute coronary syndromes and anaphylaxis along with the published cases with Kounis syndrome secondary to beta-lactam antibiotics. We have summarized our recommendations for the work-up and treatment of Kounis syndrome from available data. Obviously, larger prospective studies are needed to establish definitive treatment guidelines for these patients.

Dravet syndrome is among the most challenging electroclinical syndromes. There is a high likelihood of recurrent status epilepticus; seizures are medically refractory; and patients have multiple co-morbidities, including intellectual disability, behaviour and sleep problems, and crouch gait. Additionally, they are at significant risk of sudden unexplained death. This review will focus predominantly on the prophylactic medical management of seizures, addressing both first-line therapies (valproate and clobazam) as well as second-line (stiripentol, topiramate, ketogenic diet) or later options (levetiracetam, bromides, vagus nerve stimulation). Sodium channel agents-including carbamazepine, oxcarbazepine, phenytoin and lamotrigine-should be avoided, as they typically exacerbate seizures. Several agents in development may show promise, specifically fenfluramine and cannabidiol, but they need further evaluation in randomized, controlled trials. In addition to prophylactic treatment, all patients need home-rescue medication and a status epilepticus protocol that can be carried out in their local hospital. Families must be counselled on non-pharmacologic strategies to reduce seizure risk, including avoidance of triggers that commonly induce seizures (including hyperthermia, flashing lights and patterns). In addition to addressing seizures, holistic care for a patient with Dravet syndrome must involve a multidisciplinary team that includes specialists in physical, occupational and speech therapy, neuropsychology, social work and physical medicine.

Anatomic and physiologic changes introduced by gastric surgery result in clinically significant dumping syndrome in approximately 10% of patients. Dumping is the effect of alteration in the motor functions of the stomach, including disturbances in the gastric reservoir and transporting function. Gastrointestinal hormones play an important role in dumping by mediating responses to surgical resection. Treatment options of dumping syndrome include diet, medications, and surgical revision. Poor nutrition status can be anticipated in patients who fail conservative therapy. Management of refractory dumping syndrome can be a challenge. This review highlights current knowledge about the mechanisms of dumping syndrome and available therapy.

Piriformis syndrome (PS) is an uncommon cause of sciatica that involves buttock pain referred to the leg. Diagnosis is often difficult, and it is one of exclusion due to few validated and standardized diagnostic tests. Treatment for PS has historically focused on stretching and physical therapy modalities, with refractory patients also receiving anesthetic and corticosteroid injections into the piriformis muscle origin, belly, muscle sheath, or sciatic nerve sheath. Recently, the use of botulinum toxin (BTX) to treat PS has gained popularity. Its use is aimed at relieving sciatic nerve compression and inherent muscle pain from a tight piriformis. BTX is being used increasingly for myofascial pain syndromes, and some studies have demonstrated superior efficacy to corticosteroid injection. The success of BTX in treating PS supports the prevailing pathoanatomic etiology of the condition and suggests a promising future for BTX in the treatment of other myofascial pain syndromes.

... Resources and Publications What are common treatments for Turner syndrome? Skip sharing on social media links Share this: Page Content Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms. These ...

This article explores the surprising finding that bariatric surgery can produce full and durable remission of the metabolic syndrome as well as other comorbidities of obesity including type II diabetes, hypertension, polycystic ovary syndrome, gastroesophageal reflux disease, nonalcoholic steatotic hepatitis, adult asthma and improvement in weight-bearing arthropathy. Such an outcome was previously deemed impossible. One effect of the surgery is the correction of hyperinsulinemia, a common denominator in the various expressions of the metabolic syndrome. Basal insulin levels return to normal levels within a matter of days following surgery, allowing a return of the first phase of insulin secretion. This effect is 'dose related' to the extent of the reduction of contact between food and the gut. The resolution of the spectrum of diseases that comprise the metabolic syndrome following bariatric surgery suggests that hyperinsulinemia may be the common cause that is corrected by lowering contact between food and the gut. If this concept is true, then the cause of the syndrome, including diabetes, could be a diabetogenic signal from the gut that forces the islets to produce excessive and harmful levels of insulin, or the cause could be the removal of a signal that blocks excessive insulin secretion. If either of these mechanisms is proven correct, the current treatment of diabetes with long-term insulin administration deserves review.

Mifepristone is a potent antagonist of glucocorticoid and progesterone receptors. It is the only drug administered to humans with these actions. Exploration of mifepristone in the treatment of Cushing's syndrome is in its infancy. The cases reviewed in this report comprise the entire medical literature. Development and availability of mifepristone has been severely restricted because of controversy surrounding its ability to function as an "abortion pill." As the political controversy abates, increasing studies of this drug may be anticipated in patients with glucocorticoid excess. Although the authors have highlighted therapeutic trials with the drug, they also note that diagnostic uses in cases of glucocorticoid excess may be of interest. Some cases of endogenous Cushing's syndrome are difficult to diagnosis and a glucocorticoid antagonist may be as useful as a glucocorticoid agonist (such as dexamethasone) in the dynamic evaluation of glandular function. In particular, mifepristone might be useful in distinguishing pituitary from occult ectopic ACTH-secreting tumors. One of the primary problems surrounding the use of mifepristone in cases of Cushing's syndrome is the long half-life of the drug and the necessity to titrate doses carefully in a manner that avoids signs and symptoms of glucocorticoid deficiency. Biochemical markers reflecting the "glucocorticoid status" of a patient would be useful for dose adjustment and monitoring and would improve the risk to benefit ratio for mifepristone treatment of Cushing's syndrome.

The management of venous compression syndromes has historically been reliant on surgical treatment when conservative measures fail. There are, however, several settings in which endovascular therapy can play a significant role as an adjunct or even a replacement to more invasive surgical methods. We explore the role of minimally invasive treatment options for three of the most well-studied venous compression syndromes. The clinical aspects and pathophysiology of Paget-Schroetter syndrome (PSS), nutcracker syndrome, and May-Thurner syndrome are discussed in detail, with particular emphasis on the role that interventionalists can play in minimally invasive treatment. PMID:28123978

Lateral hip pain, or greater trochanteric pain syndrome, is a commonly seen condition; in this article, the relevant anatomy, epidemiology, and evaluation strategies of greater trochanteric pain syndrome are reviewed. Specific attention is focused on imaging of this syndrome and treatment techniques, including ultrasound-guided interventions.

... and Treatment? Myelodysplastic Syndromes About Myelodysplastic Syndromes What's New in Myelodysplastic Syndrome Research and Treatment? Genetics and ... research unfolds, it may be used to design new drugs or eventually in developing gene therapy. This ...

... are the types? What are common symptoms? How many people are affected/at risk? ... are the treatments for Rett syndrome? Skip sharing on social media links Share this: Page Content Most people with ...

The paper reviews research into treatment approaches in Down's Syndrome. Pharmacological treatments reviewed include thyroid therapy, 5-hydroxytryptophan, vitamin therapy, and cell therapy. Other treatments considered are movement patterning, early intervention, and facial surgery. Early educational intervention is seen as the most effective…

The term acute coronary syndromes includes a phantom of symptomatic clinical pictures that represent the acute occlusion of the coronary arteries by diverse degrees of plate of cholesterol, clot and spasm. They are divided in acute coronary ischemic syndromes without elevation of the ST (instable angina). And with elevation of the ST (acute infarct to the myocardium). The pharmacologic therapy includes a treatment in common for the syndromes before diagnosing the tipe of syndrome, this called therapy attached treatment includes the administration of oxygen, morphine, aspirin, nitrates, betablock, astatines and laxatives. The treatment for the acute coronary ischemic syndromes without elevation of the ST is with a preservative strategy where plaquetary antithrombotic drugs are used, while in the treatment of the acute coronary ischemic syndromes with elevation of the ST the strategy is of repercussion with the fibrinolytic drugs use like streptokinase anda rt-PA. The participation of infirmary is essential during the evolution and treatment of the individual dividing in four sections its interventions according to the clinical situation and time of intervention.

In the treatment of violent-aggressive behavior, four major groups of drugs emerged: 1. Major tranquilizers in the treatment of aggressive-violent behavior associated with psychotic syndromes. 2. Anti-epileptic drugs such as diphenylhydantoin and barbiturates in the treatment of aggressive-violent behavior within the epileptic syndrome. 3. Psychostimulants in the treatment of aggressive behavior of adolescents and children within behavior disturbances. 4. Anti-male hormones such as cyproterone acetate in the treatment of violent-aggressive behavior associated with pathological sexual hyperactivity. Whereas each category of drug is predominantly effective in one type of aggressive syndrome, it may also be effective in other conditions as well. Aggression as a result of a personality disorder is most difficult to treat with drugs.

Despite the numerous advantages of linezolid therapy, one disadvantage continuing to hinder its use is the risk of serotonin syndrome when coadministered with other serotonergic agents. Developing a better understanding of serotonin syndrome is essential for the prevention and management of this potentially life-threatening condition. This report describes a patient with schizophrenia, depression, and severe, acute osteomyelitis. The patient was taking multiple serotonergic agents and required the use of linezolid without the possibility of a sufficient washout period. The severity of the patient's condition in conjunction with increased risk for serotonin syndrome warranted prophylactic treatment with cyproheptadine. The complex pathophysiology of prophylactic treatment of serotonin syndrome with cyproheptadine is worthy of discussion.

Context: Cuboid syndrome is thought to be a common source of lateral midfoot pain in athletes. Evidence Acquisition: A Medline search was performed via PubMed (through June 2010) using the search terms cuboid, syndrome, subluxed, locked, fault, dropped, peroneal, lateral, plantar, and neuritis with the Boolean term AND in all possible combinations. Retrieved articles were hand searched for additional relevant references. Results: Cuboid syndrome is thought to arise from subtle disruption of the arthrokinematics or structural congruity of the calcaneocuboid joint, although the precise pathomechanic mechanism has not been elucidated. Fibroadipose synovial folds (or labra) within the calcaneocuboid joint may play a role in the cause of cuboid syndrome, but this is highly speculative. The symptoms of cuboid syndrome resemble those of a ligament sprain. Currently, there are no definitive diagnostic tests for this condition. Case reports suggest that cuboid syndrome often responds favorably to manipulation and/or external support. Conclusions: Evidence-based guidelines regarding cuboid syndrome are lacking. Consequently, the diagnosis of cuboid syndrome is often based on a constellation of signs and symptoms and a high index of suspicion. Unless contraindicated, manipulation of the cuboid should be considered as an initial treatment. PMID:23016051

Trichobezoars are hairballs or hair-like fibers formed by chewing and swallowing hair or any other indigestible materials. Trichobezoars usually form in the gastric body and are thus prepyloric. However, trichobezoars may rarely pass through the pylorus into the duodenum, jejunum, ileum, and even the colon, in a condition referred to as Rapunzel syndrome. Here, we present a case of a 13-year-old girl with this rare syndrome and discuss the diagnosis and treatment of the disease. PMID:27900201

Asperger syndrome (AS) is a neurobiological disorder whose core clinical symptoms include impairment in social interaction, impairments in verbal and nonverbal communication, and restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. AS is often accompanied by coexisting neuropsychiatric disorders, including…

Laron syndrome is a rare cause of short stature due to an abnormality of growth hormone receptor (GHR). It is characterized by poor phenotype-genotype correlation and geographic predilection essentially in the Mediterranean rim, the Middle East and Indian subcontinent. This syndrome corresponds to an endogenous and exogenous complete insensitivity of GH and manifests by early hypoglycemia, an extremely severe short stature and dysmorphic features contrasting with high levels of circulating GH. To date, treatment with recombinant IGF1 is the only treatment option that has improved the terrible prognosis in these patients but does not actually realize the conditions for genuine replacement therapy.

... a laser or other type of light. The measurements are based on how the light-sensitive dye ... is a research study meant to help improve current treatments or obtain information on new treatments for ...

Background Alien hand syndrome (AHS) is a disorder of involuntary, yet purposeful, hand movements that may be accompanied by agnosia, aphasia, weakness, or sensory loss. We herein review the most reported cases, current understanding of the pathophysiology, and treatments. Methods We performed a PubMed search in July of 2014 using the phrases “alien hand syndrome,” “alien hand syndrome pathophysiology,” “alien hand syndrometreatment,” and “anarchic hand syndrome.” The search yielded 141 papers (reviews, case reports, case series, and clinical studies), of which we reviewed 109. Non-English reports without English abstracts were excluded. Results Accumulating evidence indicates that there are three AHS variants: frontal, callosal, and posterior. Patients may demonstrate symptoms of multiple types; there is a lack of correlation between phenomenology and neuroimaging findings. Most pathologic and functional imaging studies suggest network disruption causing loss of inhibition as the likely cause. Successful interventions include botulinum toxin injections, clonazepam, visuospatial coaching techniques, distracting the affected hand, and cognitive behavioral therapy. Discussion The available literature suggests that overlap between AHS subtypes is common. The evidence for effective treatments remains anecdotal, and, given the rarity of AHS, the possibility of performing randomized, placebo-controlled trials seems unlikely. As with many other interventions for movement disorders, identifying the specific functional impairments caused by AHS may provide the best guidance towards individualized supportive care. PMID:25506043

The metabolic syndrome (MBS) is characterised by a clustering of cardiovascular and metabolic risk factors. This syndrome is now widely recognised as a distinct pathological entity, and it is receiving a great deal of attention in the medical literature but also in the lay press. Globally speaking, persons with MBS have a clustering of the following risk factors: [List: see text] MBS is associated with important cardio/cerebrovascular and metabolic risks. Prevention and treatment are therefore of great importance. Preventive measures involving lifestyle are mandatory. In addition, MBS patients require pharmacological treatment, usually for the rest of their lives. Complex patterns of drug treatment will be required, since all the different, heterogenous pathophysiological problems will require appropriate treatment. After an introduction to MBS, this article provides an extensive and critical review of the drug treatment of this complex pathological entity. ImagesFigure 2 PMID:25696664

Metabolic syndrome is associated with increased risk for cardiovascular and cerebrovascular disease. The World Health Organization and National Cholesterol Education Program Adult Treatment Panel III have identified physiologic abnormalities associated with metabolic syndrome, including impaired glucose metabolism, high blood pressure, elevated cholesterol levels, and abdominal obesity. It is estimated that 47 million Americans have metabolic syndrome. A variety of therapies may help reduce the incidence and risk, including diet, weight loss, physical exercise, glycemic control, and pharmacological treatments. Nursing care is focused on developing an individualized plan of care that includes family members and providing education, psychosocial support, close monitoring, and continued follow-up to ensure adherence and success in achieving patient outcomes.

In The Clinic of Cathedra of The Catastrophes Medicine, Military Medicine, Anesthesiology and Reanimatology in 2010 - 2013 yrs 53 patients, ageing 23-65 yrs, were treated for diabetic foot syndrome (DFS) of neuropathic and mixed forms. Diagnostic-treatment algorithm was proposed for determination of level and degree of a circulation and neuropathic disorders, introduction of which have promoted optimization of surgical and local treatment, improvement of the complex treatment results in patients, suffering DFS. A new method of treatment application, using combined preparation of hyaluronic acid with the sodium succinic, have permitted to achieve a complete healing of the ulcer defect.

Acute renal impairment is common in patients with chronic liver disease, occurring in approximately 19% of hospitalised patients with cirrhosis. A variety of types of renal impairment are recognised. The most important of these is the hepatorenal syndrome, a functional renal impairment due to circulatory and neurohormonal abnormalities that underpin cirrhosis. It is one of the most severe complications of cirrhosis with survival often measured in weeks to months. A variety of treatment options exist with early diagnosis and appropriate treatment providing the best hope for cure. This paper provides a comprehensive and up-to-date review of hepatorenal syndrome and lays out the topic according to the following sections: pathophysiology, historical developments, diagnostic criteria and limitations, epidemiology, precipitating factors, predictors, clinical and laboratory findings, prognosis, treatment options, prophylaxis, and conclusion. PMID:25649410

Burnout syndrome is a socio-psychological phenomenon of emotional, motivational, and physical exhaustion as a result of chronic occupational stress. It is manifested as long-term emotional exhaustion, depersonalization and diminished personal and professional achievements. Burnout syndrome is common among health care workers, 'due to their high dedication, empathy for suffering patients, and decision-making related to life and health of patients. Personal, role and organizational factors influence on development of burnout. The clinical picture of burnout is multifactorial and can be described as a set of psychosomatic and somatic disorders, symptoms of social dysfunction. Diversity and non-specific symptoms of burnout syndrome determine the need for an interdisciplinary approach to its diagnosis. The leading role in solving problems related to stress and emotional burnout plays psychotherapy. The paper presents diagnostic criteria, risk factors, and methods of prevention and treatment of emotional burnout.

Hereditary recurrent fevers are rare genetic diseases characterized by apparently spontaneous attacks of inflammation. They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle-Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease). Musculoskeletal manifestations are common. They may occur as features of the acute inflammatory attacks or persist for longer periods. Among them, the most common include arthritis of the large and medium-sized joints in FMF and CINCA, arthralgia in HIDS, and myalgia or pseudo-fasciitis in TRAPS. The outcome is usually favorable, although joint destruction may develop in CINCA or at the hip in FMF. The recurrent bouts of fever and accompanying clinical manifestations suggest the diagnosis, which can be confirmed by genetic testing. Among differential diagnoses, infection should be considered routinely. The treatment of the inflammatory attacks is nonspecific. New pathophysiological insights have led to the development of promising maintenance treatments designed to reduce the number and severity of the inflammatory attacks and to diminish the risk of secondary amyloidosis.

The detection, correction or withdrawal of any cause or associated factor including obesity, drugs or alcohol is essential in the treatment of obstructive sleep apnea syndrome. Treatment is mainly mechanical or surgical, but not medical. Nasal continuous positive airway pressure (NCPAP) has now largely replaced tracheostomy and successful long-term domestic use of this method has been reported on many occasions. Oropharyngeal surgery can solve a large part of social snoring problems. However criteria for procedure selection and evaluation of results are still needed to clarify the indication of this operation in patients with full clinical expression of the syndrome. In this regard, a comprehensive preoperative evaluation and a logical approach to the reconstruction of the upper-airway has recently led to the association of palatopharyngoplasty and maxillo-mandibular surgery, with an excellent long-term success rate.

Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome. PMID:19857242

Hepatorenal syndrome (HRS) is a life-treating complication of liver diseases. This functional kidney impairment is classified into acute (type I) and chronic (type II) types and is connected with high mortality. Treatment options are limited, but administration of vasoconstrictors (terlipressin), albumin and portosystemic shunt may improve their prognosis. Liver transplantation is the most effective method for these patients. Authors want to present recent data relating to HRS, including therapeutic recommendations.

Background Burning mouth syndrome (BMS) is a frequently occurring disease characterized by a burning or painful sensation in the tongue and/or other oral sites without clinical mucosal abnormalities or lesions. Its etiopathology is unknown, although local, systemic, and psychological factors have been associated with BMS. The syndrome is multifactorial, and its management remains unsatisfactory. The purpose of this study was to obtain preliminary data regarding the efficacy and tolerability of amisulpride in BMS treatment. Methods The subjects were treated with amisulpride (50 mg/day) for 24 weeks. Efficacy assessment included a visual analogue scale (VAS) for pain intensity, the Hamilton Rating Scale for Depression (HAM-D), the Hamilton Rating Scale for Anxiety (HASM-A), and the Clinical Global Impression Scale-Efficacy Index (CGI-EI). Results The treatment regimens resulted in a significant improvement in burning mouth symptoms from baseline at week 24, as indicated by the quantitative mean illness duration VAS score, HAM-D, and HAM-A. Amisulpride appears to be effective and patients show a rapid response to treatment. No serious adverse effects were encountered in these patients. Conclusions Amisulpride is effective and well tolerated as a short-term treatment. It is particularly efficacious at the start of treatment and has shorter response latency. Double-blind placebo-controlled trials are needed for further assessment of the efficacy of amisulpride in BMS treatment. PMID:22719802

Rhabdomyolysis is a syndrome of skeletal muscle cell damage that leads to the release of toxic intracellular material into the systemic circulation. The pathogenesis of rhabdomyolysis is based on an increase in free ionized calcium in the cytoplasm. Its main complications include (a) acute renal failure, which is triggered by renal vasoconstriction and ischemia, (b) myoglobin cast formation in the distal convoluted tubules, and (c) direct renal toxic effect of myoglobin on the epithelial cells of proximal convoluted tubules. Other major complications include electrolyte disorders, such as hyperkalemia, which may cause cardiac arrhythmias, metabolic acidosis, hyperphosphatemia, early hypocalcemia, and late hypercalcemia. Compartmental syndrome and disseminated intravascular coagulopathy may also emerge. The management of myoglobinuric acute renal failure includes aggressive fluid administration to restore the hypovolemia and urine alkalization. The concomitant electrolyte and metabolic disorders should also be treated appropriately; hemodialysis should be considered when life-threatening hyperkalemia and metabolic acidosis exist. In the case of compartmental syndrome, it is important to monitor the intra-compartmental pressure and to perform fasciotomy, if required. When diagnosed early and if the appropriate treatment is initiated promptly, the complications of rhabdomyolysis are preventable and the syndrome has a good prognosis.

Four in-patients with moderate alcohol-withdrawal syndromes benefited from treatment with gabapentin administered in an add-on fashion to clomethiazole. In comparison with the amount of clomethiazole required as estimated using a specially developed score during previous detoxifications of these patients at our hospital, gabapentin (400 mg q.i.d.) clearly reduced the amount of clomethiazole needed now Gabapentin, an anticonvulsant with favorable pharmacokinetic properties and tolerability, and with no known risk of dependence, may therefore be a useful new drug in the treatment of alcohol withdrawal. We believe that the potential value of gabapentin in alcohol withdrawal deserves further controlled studies.

PURPOSE OF THE STUDY Arthroscopic treatment of calcaneal spur syndrome is a tissue-sparing and effective approach when conservative therapy has failed. This method, its results and our experience with the treatment of this syndrome are presented here. MATERIAL Between January 2003 and November 2007, 26 patients underwent an arthroscopic procedure for calcaneal spur syndrome; of these, 20 were women with an average age of 49 years, and six were men with an average age of 45 years. Four, three women and one man, were lost to follow-up, therefore 22 patients with 24 heels were eventually evaluated. All had conservative therapy for 3 to 6 monts. METHODS The arthroscopic method used was developed by the arthroscopic group of the Orthopaedic Service of Hospital Hermanos Ameijeiras in Havana, Cuba. The surgical technique insolves treatment of the spur and plantar fasciitis commonly found in calcaneal spur syndrome, but it also addresses adjacent calcaneal periostitis. RESULTS The results were evaluated on the scale that is part of the foot function index developed by Budiman-Mak for measuring rheumatoid arthritis pain. The patients were asked mine questions on pain intensity during various activities before and after surgery. Pain was evaluated on a scale with grades from 0 to 9. The average value was 5.9 before surgery and 1.4 after surgery. A 0-1 pain range was reported by 25 %, 1-2 by 26 % and 2-4 by 22 % of the patients. All patients reported improvement. DISCUSSION The orthopaedic group in Havana led by Carlos achieved 85 % excellent outcomes (pain range, 0-2) at one-year followup; this was 79 % in our study, in which no problems with foot arches or wound infection were recorded. CONCLUSIONS The heel spur syndrome is a result of an inflamed ligament (plantar fascia) due to repeated microtrauma. It is not a traction osteophyte,but a reaction of the tissue where it attaches to the calcaneus. Adjacent calcaneal periostitis is usually present as well. Therefore, this

Observation covered 12 patients under various antitumor medications. Group 1 was formed of patients with developed palmoplantar syndrome varying in severity, who received complex treatment including IR-therapy and local antioxidant medication. Group 2 included patients without palmoplantar syndrome, who received preventive treatment with IR-therapy. All patients of group 1 demonstrated lower severity of palmoplantar syndrome manifestations. In group 2, 80% of the patients avoided palmoplantar syndrome development, and 20% of the patients had light course of the syndrome manifestations. Patients at high risk of palmoplantar syndrome under antitumor therapy are recommended to undergo IR-therapy and local antioxidant medication.

First bite syndrome is a potential complication of surgery involving the infratemporal fossa, deep lobe of the parotid gland and parapharyngeal space. It is described as an acute and intense pain in the parotid region caused with the first bite of each meal. It is related to damage to sympathetic innervation of the parotid gland. Parasympathetic hyperactivation is believed to stimulate an exaggerated myoepithelial cell contraction causing pain. Usual analgesic treatments have poor results. Botulinum toxin type A causes parasympathetic nerve paralysis of the parotid gland and this fact would minimize salivation and decrease first bite syndrome. The aim of this study is to show the details of the technique and our outcomes in 5 patients treated with botulinum toxin type A.

Endogenous Cushing syndrome (CS) results from hypercortisolemia caused by excess adrenocorticotropic hormone production in a pituitary adenoma or ectopic tumor, or by an adrenal tumor that directly produces excess cortisol. The diagnosis can usually be ascertained with a reasonable degree of certainty based on clinical and laboratory findings of hypercortisolism. There are patients, however, in whom the production of excess cortisol exhibits a cyclic or intermittent pattern, and, as a result, the clinical symptoms may be quite complex and varied. In these patients the hypothalamic-pituitary-adrenal axis may be normal between cycles, and dexamethasone suppression testing may produce a paradoxical response. In the present article, the authors provide a definition of cyclic Cushing syndrome, review the causes and its potential pathophysiological mechanisms, and discuss the treatment options based on a review of the available literature.

Cannabinoids have been used for hundred of years for medical purposes. To day, the cannabinoid delta-9-tetrahydrocannabinol (THC) and the cannabis extract nabiximols are approved for the treatment of nausea, anorexia and spasticity, respectively. In Tourette syndrome (TS) several anecdotal reports provided evidence that marijuana might be effective not only in the suppression of tics, but also in the treatment of associated behavioural problems. At the present time there are only two controlled trials available investigating the effect of THC in the treatment of TS. Using both self and examiner rating scales, in both studies a significant tic reduction could be observed after treatment with THC compared to placebo, without causing significant adverse effects. Available data about the effect of THC on obsessive-compulsive symptoms are inconsistent. According to a recent Cochrane review on the efficacy of cannabinoids in TS, definite conclusions cannot be drawn, because longer trials including a larger number of patients are missing. Notwithstanding this appraisal, by many experts THC is recommended for the treatment of TS in adult patients, when first line treatments failed to improve the tics. In treatment resistant adult patients, therefore, treatment with THC should be taken into consideration. PMID:23187140

Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) syndrome is a rare and often unrecognized disease with prominent inflammatory cutaneous and articular manifestations. Since the identification of the syndrome many immunosuppressive drugs have been used for the management of SAPHO, with variable results. The use of anti- TNF-α agents as a therapeutic option for SAPHO cases unresponsive or refractory to conventional drugs, demonstrated their efficacy for bone, skin and joints manifestations. TNF-α is a pro-inflammatory cytokine and pivotal regulator of other cytokines, including IL-1 β , IL-6 and IL-8, involved in inflammation, acute-phase response induction and chemotaxis. IL-1 inhibition strategies with Anakinra have proven their efficacy as first and second line treatment. We herein review the literature concerning the use of biological drugs in patients with SAPHO syndrome. In addition, we describe for the first time the use of Ustekinumab, an antibody against the p40 subunit of IL-12 and IL-23, after failure of multiple drugs including anti-TNF-α and Anakinra. This anti-IL12/IL23 agent could be a promising therapeutic option, also considering the opportunity to interfere with the IL23/TH17 pathway, which we recently found disturbed. Furthermore, a rationale emerges for the use of the new anti-IL-1 antagonists or the IL-17 blockade, in particular for the most difficult-to-treat SAPHO cases.

Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory sensory urges before tic execution and desire for "just-right" perception are central features. The pathophysiology involves cortico-striato-thalamo-cortical circuits and possibly dopaminergic system. TS is considered a genetic disorder but the genetics is complex and likely involves rare mutations, common variants, and environmental and epigenetic factors. Treatment is multimodal and includes education and reassurance, behavioral interventions, pharmacologic, and rarely, surgical interventions.

Self-evaluation of the effect of single-dose (15 mg) ladasten administration versus placebo has been studied in patients with neurasthenia diagnosis. Relationships between self-evaluation parameters and personal features, psychopathological and psychophysiological parameters of patients, drug action characteristics, and course treatment effectiveness have been analyzed. Results suggest that the self-rated high tolerability of ladasten treatment is comparable with that of placebo. No relationships are found between the self-evaluated single-dose effects of ladasten and personal features of patients. Correlations of the self-estimations and some psychopathological and psychophysiological parameters before treatment, main drug effects, and overall course treatment effectiveness are revealed, whereas the self-evaluation of placebo effect was related to personal features.

Controversy surrounds the treatment of recurrent cubital tunnel syndrome after previous surgery. Irrespective of the surgical technique, namely pure decompression in the ulnar groove and the cubital tunnel distal of the medial epicondyle, and the different methods of volar transposition (subcutaneous, intramuscular, and submuscular), the results of surgical therapy of cubital tunnel syndrome are often not favorable, especially in cases of long-standing symptoms and severe deficits. Twenty-two patients who had previously undergone surgical treatment for ulnar nerve entrapment at the elbow were evaluated because of persistent or recurrent pain, paresthesia, numbness, and motor weakness. Ten patients had undergone a nerve transposition, 5 patients underwent a simple decompression of the ulnar nerve, and 7 patients experienced two previous operations with different surgical techniques. Two patients underwent surgery at our hospital, whereas 20 patients underwent their primary surgery at other institutions. Various surgical techniques were used during the subsequent surgery, such as external neurolysis, subcutaneous anterior transposition, and subsequent transfer of the nerve back into the sulcus. The causes of continued or recurrent symptoms after initial surgery included dense perineural fibrosis of the nerve after subcutaneous transposition, adhesions of the nerve to the medial epicondyle and retention of the medial intermuscular septum. The average follow-up after the last procedure was 7 months (2 - 20 months). All 7 patients with subsequent transfer of the ulnar nerve back into the sulcus became pain-free, whereas only 11 of 15 patients who had external neurolysis or subcutaneous transposition became free of pain or experienced reduced pain. The recovery of motor function and return of sensibility were variable and unpredictable. In summary, reoperation after primary surgery of cubital tunnel syndrome gave satisfactory results in 18 of 22 cases. Subsequent

Objective: To explore the application and efficacy of TNF-α inhibitors in the treatment of SAPHO syndrome. Methods: Two cases of refractory SAPHO syndrome were successfully treated with etanercept. And pain scores, laboratory parameters and functional index were used to judge the efficacies. Literature was also systemically reviewed. Results: Both patients achieved marked clinical remission. There was no obvious toxic or adverse response. Conclusion: Etanercept has rapid and definite efficacies in the treatment of patients with refractory SAPHO syndrome. PMID:28078192

Irritable bowel syndrome (IBS) is a highly prevalent functional bowel disorder routinely encountered by healthcare providers. Although not life-threatening, this chronic disorder reduces patients’ quality of life and imposes a significant economic burden to the healthcare system. IBS is no longer considered a diagnosis of exclusion that can only be made after performing a battery of expensive diagnostic tests. Rather, IBS should be confidently diagnosed in the clinic at the time of the first visit using the Rome III criteria and a careful history and physical examination. Treatment options for IBS have increased in number in the past decade and clinicians should not be limited to using only fiber supplements and smooth muscle relaxants. Although all patients with IBS have symptoms of abdominal pain and disordered defecation, treatment needs to be individualized and should focus on the predominant symptom. This paper will review therapeutic options for the treatment of IBS using a tailored approach based on the predominant symptom. Abdominal pain, bloating, constipation and diarrhea are the four main symptoms that can be addressed using a combination of dietary interventions and medications. Treatment options include probiotics, antibiotics, tricyclic antidepressants, selective serotonin reuptake inhibitors and agents that modulate chloride channels and serotonin. Each class of agent will be reviewed using the latest data from the literature. PMID:21180545

TOURETTE SYNDROME (TS) IS A CHRONIC NEURODEVELOPMENTAL DISORDER CHARACTERIZED BY TICS: repetitive, involuntary movements and vocalizations. These symptoms can have a significant impact on patients' daily functioning across many domains. Tics tend to be most severe in child and adolescent sufferers, so their presence has the potential to impact a period of life that is both critical for learning and is often associated with the experience of greater social tension and self-consciousness than adulthood. Furthermore, control over tics that lead to physical impairment or self-injurious behaviour is of vital importance in maintaining health and quality of life. There are numerous complicating factors in the prescription of treatment for tics, due to both the side effects associated with alleviating agents and patient characteristics, such as age and comorbid conditions. This review summarizes literature pertaining to the efficacy and safety of both traditionally prescribed and more modern medications. We also discuss the merits of behavioural and surgical techniques and highlight newer emerging treatments. Although treatment response is to some extent variable, there are a number of agents that are clearly useful as first-line treatments for TS. Other interventions may be of most benefit to patients exhibiting refractory tics or more specific symptom profiles.

The key to diagnosing vertigo and balance disorders is systematic analysis of case history with clinical examination of the vestibular, oculomotor, and cerebral systems in particular. Important criteria for differentiating between the various vertigo syndromes are 1) the time course of symptoms, 2) the type of symptoms, 3) modulating factors, and 4) associated symptoms. For clinical examination of the vestibular system, six important tests are available: assessment of spontaneous nystagmus, head impulse test, dynamic visual acuity, subjective visual verticality, positioning manoeuvre, and the Romberg test/gait analysis with eyes open and closed. On the basis of five clinical signs (vertical divergence, central fixation nystagmus, gaze-evoked nystagmus, saccades, normal head impulse test), the clinical examination is able to differentiate between acute central and peripheral vestibular syndromes with a sensitivity and specificity of over 90%. The most relevant laboratory examinations are caloric irrigation and the video head-impulse test for canal function and the vestibular evoked myogenic potentials for otolith function. Finally, treatment is based upon four therapeutic principles: physiotherapy, pharmacotherapy, psychotherapy, and in rare cases, surgery.

This article discusses fetal alcohol syndrome (FAS) including causes, common characteristics, secondary characteristics, prevention, and treatment. Economic implications are noted which suggest that treatment costs are 100 times the cost of prevention programs. (DB)

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women in reproductive age. As for the treatment of this disease the lack of a clear etiology for PCOS has led to a symptom-orientated treatment. However, the overall aims of treatment are to induce ovulation for women desiring conception, to reduce androgen levels, to reduce body weight and to reduce long-term health risks of diabetes mellitus and cardiovascular disease. Clomiphene citrate (CC) is recommended as first line treatment for induction of ovulation in patients with PCOS by virtue of its efficacy, safety, and ease of administration. Alternatives for CC-resistant patients include gonadotrophin therapy (better with low-dose step-up protocol) and laparoscopic ovarian diathermy. Recently, recombinant FSH (rFSH) has been introduced in clinical practice and it seems more effective than urinary FSH as demonstrated by a significantly higher number of follicles recruited and embryos obtained with a shorter treatment period. The addition of GnRH-agonist to the stimulation protocol for women affected by PCOS could reduce premature luteinization and increase cycle fecundity. Other drugs under investigation are metformin and cabergoline. Hirsutism is the manifestation of hyperandrogenemia in PCOS. The primary goal of the treatment of hirsutim is central or peripheral androgen suppression using 3 groups of drugs: inhibitors of androgen production (oral contraceptives, GnRH analogues), peripheral androgen blockers (cyproterone acetate, flutamide, finasteride and spironolactone), and insulin-sensitizing agents (metformin). Weight reduction and exercise could also improve not only menstrual disturbances and infertility, but also insulin resistance and its adverse metabolic con-sequences.

Fibromyalgia syndrome (FMS) is a chronic, idiopathic condition of widespread musculoskeletal pain, affecting primarily women. It is clinically characterized by chronic, nonarticular pain and a heightened response to pressure along with sleep disturbances, fatigue, bowel and bladder abnormalities, and cognitive dysfunction. The diagnostic criteria have changed repeatedly, and there is neither a definitive pathogenesis nor reliable diagnostic or prognostic biomarkers. Clinical and laboratory studies have provided evidence of altered central pain pathways. Recent evidence suggests the involvement of neuroinflammation with stress peptides triggering the release of neurosenzitizing mediators. The management of FMS requires a multidimensional approach including patient education, behavioral therapy, exercise, and pain management. Here we review recent data on the pathogenesis and propose new directions for research and treatment. PMID:26306765

Abstract To investigate effects of surgical treatment on adult tethered cord syndrome (TCS). A retrospective analysis of 82 adult patients (17 male cases, 82% and 24 female cases, 59%) with TCS treated by surgery was conducted between March, 2005 and December, 2015, with an average age of 31.6 years and average disease course of 6.7 years. All the 82 cases of patients received nerve electrophysiology monitoring assisted microsurgery. After surgery, all patients were followed up for an average of 2.5 years. Surgical effects were evaluated according to Hoffman grading system. As this is just a retrospective study that does not involve any interventions, ethical approval was not necessary according to the rules of the hospital. All patients were followed up, no death occurred. According to Hoffman grading system, the neurologic symptoms were improved in 22 patients (27%), stabilized in 60 patients (73%). Of 10 cases with lipoma tethered spinal cord, corresponding symptoms were improved in 2 cases. Of 32 cases with tethered spinal cord caused by dermoid cyst and epidermoid cyst, the symptoms were improved in 6 cases. Of 40 cases without occupying lesions of tethered spinal cord, the symptoms were improved in 14 cases. Besides, there was no deteriorated case. Surgical treatment on adult patients with TCS can improve the neurologic deficits which are associated with the course of disease, early treatment has much better curative effect. PMID:27861396

Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overexpression of a number of its target genes, which can cause imbalances of neurotransmission and deficits in synaptic plasticity. The use of metabotropic glutamate receptor (mGluR) blockers and gamma amino-butyric acid (GABA) agonists have been shown to be efficacious in reversing cellular and behavioral phenotypes, and restoring proper brain connectivity in the mouse and fly models. Proposed new pharmacological treatments and educational interventions are discussed in this chapter. In combination, these various targeted treatments show promising preliminary results in mitigating or even reversing the neurobiological abnormalities caused by loss of FMRP, with possible translational applications to other neurodevelopmental disorders including autism. PMID:22009360

The etiology of the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome remains unclear and treatment with various drugs for SAPHO syndrome often fails. But recently the effectiveness of intravenous bisphosphonates (BPs) for SAPHO syndrome has been reported in many cases and the use of intravenous BPs as first choice drug has been thought to be effective. On the other hand, serious side effects of intravenous BPs were reported in some cases. This is the first reported case of successful treatment of SAPHO syndrome with an oral BPs, the use of which is safer and more practical than intravenous BPs.

Background and aims Despite occasional positive reports on the efficacy of acupuncture (AC) on functions of the gastrointestinal tract, there is no conclusive evidence that AC is effective in the treatment of irritable bowel syndrome (IBS). Patients and methods Forty three patients with IBS according to the Rome II criteria were randomly assigned to receive either AC (n = 22) or sham acupuncture (SAC) (n = 21) using the so‐called “Streitberger needle”. Treatment duration was 10 sessions with an average of two AC sessions per week. The primary end point was improvement in quality of life (QOL) using the functional digestive diseases quality of life questionnaire (FDDQL) and a general quality of life questionnaire (SF‐36), compared with baseline assessments. QOL measurements were repeated three months after treatment. Results Both the AC and SAC groups improved significantly in global QOL, as assessed by the FDDQL, at the end of treatment (p = 0.022), with no differences between the groups. SF‐36 was insensitive to these changes (except for pain). This effect was partially reversed three months later. Post hoc comparison of responders and non‐responders in both groups combined revealed a significant prediction of the placebo response by two subscales of the FDDQL (sleep, coping) (F = 6.746, p = 0.003) in a stepwise regression model. Conclusions Acupuncture in IBS is primarily a placebo response. Based on the small differences found between the AC and SAC groups, a study including 566 patients would be necessary to prove the efficacy of AC over SAC. The placebo response may be predicted by high coping capacity and low sleep quality in individual patients. PMID:16150852

Irritable bowel syndrome (IBS) is a chronic functional disorder of the gastrointestinal tract. The exact cause is unknown. The diagnosis should be made on clinical grounds, using symptom-based criteria such as the Manning or Rome criteria, unless symptoms are thought to be atypical. Excluding celiac disease in all patients consulting with symptoms suggestive of IBS is worthwhile, but evidence for performing other investigations to exclude organic disease is not convincing. No medical therapy for IBS has been shown to alter the disease course, and treatment has traditionally been directed towards symptom relief. The aim should be to improve the predominant symptom reported by the patient. Fiber, peppermint oil, or antispasmodic agents are beneficial as first-line therapies in some patients. Where these fail, emerging data have confirmed the efficacy of antidepressants, drugs acting on the 5-hydroxytryptamine receptor, and probiotics in the short-term treatment of IBS. There are a number of novel therapies under development that show promise, including non-absorbable antibiotics, lubiprostone, and linaclotide. This article will provide a summary of diagnostic criteria for IBS, evidence to support investigations to exclude organic disease, and current and emerging therapies in this field.

Irritable bowel syndrome (IBS) is a functional GI disorder that is associated with abdominal discomfort and altered bowel habits. It accounts for up to 28% of patients presenting to a gastroenterology practice and poses a significant personal, societal and economic burden internationally. The Manning, Rome I and Rome II criteria were developed to identify appropriate IBS patients for entry into IBS studies in a consistent manner. Refinements in the understanding of the physiology of the enteric nervous system (ENS), which controls motility, secretion and sensation, provided the basis for our comprehension of the pathophysiology of IBS. Visceral hypersensitivity and neurotransmitter imbalance currently receive the most attention as possible mechanisms of IBS. This article outlines conventional treatments and reviews the data on emerging and experimental therapies for IBS. Emerging therapies for IBS using 5-HT mediation include 5-HT(3) antagonists, such as ondasetron, granisetron and alosetron, as well as 5-HT(4) agonists such as tegaserod and prucalopride. In addition to opioid agonists (e.g. fedotozine) several other drugs that act on other ENS receptors are being studied. In spite of significant progress in IBS research, these emerging therapies require more studies before they can be utilised as clinical treatments.

Fluvastatin has been shown to revert proinflammatory/prothrombotic effects of antiphospholipid antibodies (aPL) in vitro and in mice. Here, we examined whether fluvastatin affects the levels of proinflammatory/prothrombotic markers in antiphospholipid syndrome (APS) patients. Vascular endothelial growth factor (VEGF), soluble tissue factor (sTF), tumor necrosis factor-alpha (TNF-alpha), soluble intercellular adhesion molecule-1 (sICAM-1), sE-selectin (E-sel), C-reactive protein (CRP), and soluble vascular cell adhesion molecule (sVCAM-1), were measured in the sera of 93 APS patients and 60 controls and in the sera of nine patients with APS before and after 30 days of treatment with fluvastatin. Elevated levels of VEGF, sTF, and TNF-alpha were found in APS patients. Fluvastatin significantly reduced those markers in the majority of treated subjects. The data from this study show that statins may be beneficial in aPL-positive patients and warrant larger clinical trials to confirm the efficacy of the drug for the treatment of APS clinical manifestations.

Morphology, genetic conditioning, terminology, and the principles of treatment of Treacher Collins syndrome have been presented on the basis of our own material, as well as review of literature. Fifty patients (27 males, 23 females) were operated on at the Hospital of Plastic Surgery in Polanica Zdrój from 1976 to 2005. The patients were first seen when they were from 1 to 32 years of age (mean, 7). The disease was hereditary in 17 patients, while the remaining subjects did not reveal any genetic conditioning. The lifesaving surgical treatment was undertaken in 4 children with the most severe form of the disease who presented with dyspnea and paroxysmal apnea. In those cases, the treatment aimed at improving the respiratory function by restoring patency of the nostrils and distraction of the mandible. Twelve patients were operated on for cleft palate between 1 and 2 years of age. Twelve patients had eyelid correction with the use of musculocutaneous flap transposition from the upper eyelid (Z-plasty). The zygomatic bone and lateral wall of the orbit were reconstructed by means of iliac bone grafts in 26 patients. The auricular reconstruction was usually undertaken after 10 years of age. Nine patients underwent bilateral auricular reconstruction by means of a modified Brent method. Fifteen patients aged 12-14 had chin osteotomy according to the Obwegeser method. Nasal osteotomy was performed in 10 patients with characteristic broad, long, and hooked noses, who were operated on after 16 years of age and after completion of orthognathic treatment. In total, 258 surgical procedures were performed in 50 patients, an average of 5.2 operations per every patient. Apart from a multistage surgical treatment, the patients required a combined multidisciplinary approach, mainly due to hearing impairment and occlusal disturbances. The obtained outcome of treatment, although far from being perfect, but still beneficial, confirmed the correctness of applied approach but at the

The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious in the management of fever episodes, colchicine, for the prophylaxis of febrile episodes, and other medication for which efficacy has not been proven so far. Tonsillectomy is an option for selected patients. Usually PFAPA syndrome resolves during adolescence, but there is increasing evidence that this condition may persist into adulthood.

Overactive bladder syndrome (OAB) is a lifestyle disease and its incidence increases with age. Although it is not a life-threatening disease, it is known to have a significant impact on the quality of life. The first-choice pharmacological treatment of OAB is antimuscarinics. However, their limited clinical effectiveness and unsatisfactory tolerance profile, combined with the advancement of knowledge on the aetiopathogenesis of the disease, have inspired research on new pharmacotherapy options for OAB. Basic research has provided foundations for the development of new OAB treatments, which seem very promising and can be applied in clinical practice. The mechanisms of the studied compounds are based on their effect on certain receptors and neurotransmitters that contribute to regulating the micturition reflex. These compounds are not only more receptor-specific as compared to currently used drugs, but also some of them are organ-specific. Some of such compounds have already passed the proof-of-concept stage of development and have the therapeutic potential to determine the future of OAB pharmacotherapy. This review focuses on the mechanisms of substances that are now undergoing pre-clinical and clinical tests and their effects on the micturition cycle, while also identifying opportunities for using them with specific groups of patients. Due to the fact that OAB is a disease of symptoms and its aetiopathogenesis is complex, it seems that modern treatment methods should be tailor-made and based on the pathophysiological mechanisms that induce disease symptoms, rather than only treating the symptoms by inhibiting the contractility of the urinary bladder. PMID:26848291

We report a case of progressive, cephalosporin-susceptible, Neisseria gonorrhoeae conjunctivitis despite successful treatment of male urethritis syndrome. We hypothesize that conjunctival infection progressed due to insufficient penetration of cefixime and azithromycin and point out that extragenital infection and male urethritis may not be cured simultaneously in settings where the syndromic approach is used.

Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) whose symptoms are caused by the deficiency of enzymes involved exclusively in heparan sulfate degradation. The primary characteristic of MPS III is the degeneration of the central nervous system, resulting in mental retardation and hyperactivity, typically commencing during childhood. The significance of the order of events leading from heparan sulfate accumulation through to downstream changes in the levels of biomolecules within the cell and ultimately the (predominantly neuropathological) clinical symptoms is not well understood. The genes whose deficiencies cause the MPS III subtypes have been identified, and their gene products, as well as a selection of disease-causing mutations, have been characterized to varying degrees with respect to both frequency and direct biochemical consequences. A number of genetic and biochemical diagnostic methods have been developed and adopted by diagnostic laboratories. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. The availability of animal models for all forms of MPS III, whether spontaneous or generated via gene targeting, has contributed to improved understanding of the MPS III subtypes, and has provided and will deliver invaluable tools to appraise emerging therapies. Indeed, clinical trials to evaluate intrathecally-delivered enzyme replacement therapy in MPS IIIA patients, and gene therapy for MPS IIIA and MPS IIIB patients are planned or underway.

Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) whose symptoms are caused by the deficiency of enzymes involved exclusively in heparan sulfate degradation. The primary characteristic of MPS III is the degeneration of the central nervous system, resulting in mental retardation and hyperactivity, typically commencing during childhood. The significance of the order of events leading from heparan sulfate accumulation through to downstream changes in the levels of biomolecules within the cell and ultimately the (predominantly neuropathological) clinical symptoms is not well understood. The genes whose deficiencies cause the MPS III subtypes have been identified, and their gene products, as well as a selection of disease-causing mutations, have been characterized to varying degrees with respect to both frequency and direct biochemical consequences. A number of genetic and biochemical diagnostic methods have been developed and adopted by diagnostic laboratories. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. The availability of animal models for all forms of MPS III, whether spontaneous or generated via gene targeting, has contributed to improved understanding of the MPS III subtypes, and has provided and will deliver invaluable tools to appraise emerging therapies. Indeed, clinical trials to evaluate intrathecally-delivered enzyme replacement therapy in MPS IIIA patients, and gene therapy for MPS IIIA and MPS IIIB patients are planned or underway. PMID:26648750

Munchausen Syndrome by Proxy (MSBP) is characterized by a significant caretaker, usually a mother, deliberately inducing and/or falsely reporting illness in a child. The potentially fatal outcome of undetected MSBP makes the understanding of this syndrome gravely important. Early detection and effective intervention can be accomplished through the…

Liver cirrhosis is a major cause of morbidity and mortality worldwide, mainly due to complications of portal hypertension. In this article, we review the current understanding on the pathophysiology, the diagnostic criteria and the available therapeutic options for patients with emerging hepatic syndromes in cirrhosis, namely the hepatorenal, hepato-adrenal and hepatopulmonary syndrome. The hepatorenal syndrome is a well-recognized complication of advanced cirrhosis and is usually associated with an accelerated course to death unless liver transplantation is performed. The hepatopulmonary syndrome is often missed in the evaluation of patients with cirrhosis; however, early recognition is essential for the efficient management of individual patients. The hepato-adrenal syndrome, although not fully characterized, offers an exciting field for research and potential therapeutic interventions.

Introduction Celiac trunk (CT) compression syndrome caused by the median arcuate ligament (MAL) is a rarely diagnosed disease because of its nonspecific symptoms, which cause a delay in the correct diagnosis. Intestinal ischemia occurs, which causes symptoms of abdominal angina. One method of treatment for this disease is surgical release of the CT – the intersection of the MAL. Laparoscopy is the first step of the hybrid technique combined with percutaneous angioplasty and stenting of the CT. Aim To demonstrate the usefulness and advantages of the laparoscopic approach in the treatment of Dunbar syndrome. Material and methods Between 2013 and 2016 in the General and Minimally Invasive Surgery Department of the Medical Sciences Faculty of the University of Warmia and Mazury in Olsztyn, 6 laparoscopic procedures were performed because of median arcuate ligament syndrome. During the laparoscopy the MAL was cut with a harmonic scalpel. One month after laparoscopy 5 patients had Doppler percutaneous angioplasty of the CT with stent implantation in the Vascular Surgery Department in Pomeranian Medical University in Szczecin. Results In one case, there was a conversion of laparoscopic surgery to open due to unmanageable intraoperative bleeding. In one case, postoperative ultrasound examination of the abdominal cavity demonstrated the presence of a large hematoma in the retroperitoneal space. All patients reported relief of symptoms in the first days after the operation. Conclusions The hybrid method, combining laparoscopy and angioplasty, seems to be a long-term solution, which increases the comfort of the patient, brings the opportunity for normal functioning and minimizes the risk of restenosis. PMID:28194242

Drug-induced hypersensitivity syndrome is a systemic autoimmune disorder that results in mucocutaneous symptoms ranging in severity from mild pruritus to life-threatening skin and mucosal loss, with different nomenclature depending on the severity of the symptoms. The purpose of this article is to review the recent advances in understanding the pathology of drug-induced hypersensitivity syndrome, as well as current recommendations for both medical and wound management. PMID:24527369

The current situation of Chinese medicine and Western medicine treatment of acquired immunodeficiency syndrome (AIDS) has made the integrative medicine treatment of AIDS an important treatment strategy. Integrative medicine treatment of AIDS has made certain achievements in clinical research, basic research, and other aspects. It has good mass foundation and curative efficacy, as well as insufficiency. I hope integrative medicine can be brought into full play in the treatment of AIDS and make breakthrough progress.

Complex Regional Pain Syndrome (CRPS) is a multifactorial and disabling disorder with complex etiology and pathogenesis. Goals of therapy in CRPS should be pain relief, functional restoration, and psychological stabilization, but early interventions are needed in order to achieve these objectives. Several drugs have been used to reduce pain and to improve functional status in CRPS, despite the lack of scientific evidence supporting their use in this scenario. They include anti-inflammatory drugs, analgesics, anesthetics, anticonvulsants, antidepressants, oral muscle relaxants, corticosteroids, calcitonin, bisphosphonates, calcium channel blockers and topical agents. NSAIDs showed no value in treating CRPS. Glucocorticoids are the only anti-inflammatory drugs for which there is direct clinical trial evidence in early stage of CRPS. Opioids are a reasonable second or third-line treatment option, but tolerance and long term toxicity are unresolved issues. The use of anticonvulsants and tricyclic antidepressants has not been well investigated for pain management in CRPS. During the last years, bisphosphonates have been the mostly studied pharmacologic agents in CRPS treatment and there are good evidence to support their use in this condition. Recently, the efficacy of intravenous (IV) administration of neridronate has been reported in a randomized controlled trial. Significant improvements in VAS score and other indices of pain and quality of life in patients who received four 100 mg IV doses of neridronate versus placebo were reported. These findings were confirmed in the open-extension phase of the study, when patients formerly enrolled in the placebo group received neridronate at the same dosage, and these results were maintained at 1 year follow-up. The current literature concerning sympathetic blocks and sympathectomy techniques lacks evidence of efficacy. Low evidence was recorded for a free radical scavenger, dimethylsulphoxide (DMSO) cream (50%). The same level

The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PREPL exerts its effect by activating adaptor protein 1. Finally, neuromuscular transmission is also impaired in some congenital myopathies. The specific diagnosis of some syndromes is facilitated by clinical clues pointing to a disease gene. In absence of such clues, exome sequencing is a useful tool for finding the disease gene. Deeper understanding of disease mechanisms come from structural and in vitro electrophysiologic studies of the patient endplate, and from engineering the mutant and wild-type gene into a suitable expression system that can be interrogated by appropriate electrophysiologic and biochemical studies. Most CMS are treatable. Importantly, however, some medication beneficial in one syndrome can be detrimental in another. PMID:25792100

CBI endocannabinoid system receptors localized in the hypothalamus and the nucleus accumbens are known to regulate hunger. Hyperstimulation of the CBI receptors lead to an increase of food intake, but also to an increase of lipogenesis, decrease of adiponectin and increase of insulin resistance. Rimonabant is the first CBI central and peripheral blocker, tested in international trials (RIO-lipids, RIO-Europe and RIO-North America). Significant results on weight reduction, increased adiponectin and improved metabolic syndrome have been demonstrated. Rimonabant is a new pharmacological therapy and very interesting for tackling obesity and metabolic syndrome.

Hepatopulmonary syndrome is a rare disease that affects patients of any age with acute or chronic liver disease. Its diagnosis is based on the presence of hypoxemia and the demonstration of an intrapulmonary shunting by echocardiography with contrast or perfusion lung scanning. Pulmonary angiography is useful to demonstrate macroscopic arteriovenous communications. We describe five paediatric cases with a different natural history and evolution. Two of them were diagnosed with hepatopulmonary syndrome type 1, another two with type 2 and a fifth one with type 1 and 2, which required a different therapeutic approach in each case.

To date, the main respiratory health consequence from the collapse of the World Trade Center (WTC) on September 11, 2001 has been the "WTC Cough Syndrome" (chronic rhinosinusitis, asthma, and/or bronchitis, often complicated by gastroesophageal reflux dysfunction). Syndrome incidence and severity have been linked to WTC dust exposure intensity. While it is too early to ascertain long-term effects of WTC dust exposure, effective treatment guidelines have been designed through a collaborative effort by the three established centers of excellence for WTC medical monitoring and treatment and the WTC Registry. These treatment recommendations are described here.

We report a case report of hyperleukocytosis, fever, hypotension, pulmonary and pericardial effusions, and acute kidney injury during initial treatment with azacitidine in a patient with AML-MRC. Collectively, the symptomatology resembled differentiation syndrome. Azacitidine has been previously associated with fever, peripheral edema, and hyperleukocytosis, but its side effect profile has never been described as similar to differentiation syndrome. The patient's deteriorating course quickly turned around after treatment with dexamethasone. This potential reaction, and potential treatment, is important for clinicians to be aware of.

We present a 41-year-old man who experienced alien limb syndrome as a complication of treatment for recurrent Grade III oligodendroglioma of the right parietal lobe. Alien limb syndrome is a rare phenomenon in which a limb performs involuntary actions and the affected individual feels a sense of estrangement towards the limb. It occurs most commonly as a result of corticobasal syndrome, though a variety of other etiologies have been reported. It is rarely associated with focal lesions, such as stroke or tumors.

Carotid stump syndrome is one of the recognised causes of recurrent ipsilateral cerebrovascular events after occlusion of the internal carotid artery. It is believed that microemboli arising from the stump of the occluded internal carotid artery or the ipsilateral external carotid artery can pass into the middle cerebral artery circulation as a result of patent external carotid-internal carotid anastomotic channels. Different pathophysiologic causes of this syndrome and endovascular options for treatment are discussed.

The present report illustrates successful use of psychotropic medication targeted at symptom clusters of behavioural disturbance in a 7-year-old girl with Sanfilippo syndrome, a mucopolysaccharidosis. By identifying and targeting symptom clusters, psychotropic medication was prescribed with significant results. This approach to treatment of behavioural disturbance in Sanfilippo syndrome has not been previously described to our knowledge. Caution with regards side effects and interaction of medication is advised.

Insomnia has been reported to underlie the development and aggravation of metabolic syndrome including hypertension, cardiovascular disease, and diabetes. Treatment of insomnia is important for both the management and prevention of these comorbid disorders. We introduced the treatment strategy of insomnia for the patients with metabolic syndrome. For the better management of insomnia, sleep hygiene education should be given first, and adequate drug therapy should be started thereafter. Cognitive behavioral therapy is useful not only for insomnia symptom but also for the reducing amount of drug and prevention of the recurrence of insomnia. We expect that progress in the management of insomnia would result in the better treatment outcome of metabolic syndrome in general practice.

Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (SAPHO) is a rare disease combining skin, bone, and joint manifestations. Its treatment remains a debated issue in the absence of a valid therapeutic strategy. The experience with tumor necrosis factor alpha (TNF alpha)-blocking agents is still small but encouraging. This therapy is reserved for refractory cases. The most commonly used agent is infliximab. Only few cases treated by etanercept have been reported in the literature. We report a new case treated by this biologic therapy and discuss its place in the treatment of SAPHO syndrome. A 30-year-old male, with a history of left clavicular osteitis that required surgical bone biopsy to rule out infection and malignancy, was admitted to the rheumatology department because of recurrent anterior chest pain, lower limb arthralgia, and sacroiliac pain. Laboratory findings revealed an inflammatory syndrome. Conventional radiography and computed tomography (CT) scan of the sternocostoclavicular region showed sclerosis and hyperostosis of the left clavicle. Right sacroiliitis was diagnosed based on the radiographic findings. Moreover, the patient reported palmoplantar pustulosis, thereby strengthening the diagnosis of SAPHO syndrome. As conventional treatment based on methotrexate, corticosteroids, and zoledronic acid was not effective, etanercept was initiated with good and rapid clinical and biological improvement. The diagnosis and treatment of SAPHO syndrome are challenging due to the heterogeneity of symptoms and unknown pathogenesis. Etanercept can be an effective therapy, especially in refractory cases. Further studies are needed in order to establish a therapeutic strategy.

Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (SAPHO) is a rare disease combining skin, bone, and joint manifestations. Its treatment remains a debated issue in the absence of a valid therapeutic strategy. The experience with tumor necrosis factor alpha (TNF alpha)-blocking agents is still small but encouraging. This therapy is reserved for refractory cases. The most commonly used agent is infliximab. Only few cases treated by etanercept have been reported in the literature. We report a new case treated by this biologic therapy and discuss its place in the treatment of SAPHO syndrome. A 30-year-old male, with a history of left clavicular osteitis that required surgical bone biopsy to rule out infection and malignancy, was admitted to the rheumatology department because of recurrent anterior chest pain, lower limb arthralgia, and sacroiliac pain. Laboratory findings revealed an inflammatory syndrome. Conventional radiography and computed tomography (CT) scan of the sternocostoclavicular region showed sclerosis and hyperostosis of the left clavicle. Right sacroiliitis was diagnosed based on the radiographic findings. Moreover, the patient reported palmoplantar pustulosis, thereby strengthening the diagnosis of SAPHO syndrome. As conventional treatment based on methotrexate, corticosteroids, and zoledronic acid was not effective, etanercept was initiated with good and rapid clinical and biological improvement. The diagnosis and treatment of SAPHO syndrome are challenging due to the heterogeneity of symptoms and unknown pathogenesis. Etanercept can be an effective therapy, especially in refractory cases. Further studies are needed in order to establish a therapeutic strategy. PMID:27708894

SAPHO syndrome is a disorder involving the skin, bone and joints. The underlying causes of SAPHO are poorly understood, and treatment is, therefore, directed towards the individual symptoms. However, many patients are refractory to treatment, and new treatment options are needed. Herein, we describe a 28-year-old patient with SAPHO syndrome and palmoplantar pustulosis seen at our hospital. Treatment was initiated with non-steroidal anti-inflammatory drugs, but clinical improvement was poor. The addition of sulfasalazine and oral alendronate also failed to alleviate symptoms. We subsequently commenced treatment with adalimumab 40 mg every 15 days and suspended bisphosphonates. Following 4 weeks' treatment with adalimumab, there was clear articular improvement and disappearance of palmoplantar pustulous lesions. Nocturnal inflammatory lumbar pain and global disease assessment were also improved. To our knowledge, this is the first report on the use of adalimumab for SAPHO. More studies are required to confirm our findings.

Introduction Myelodysplastic syndrome is an incurable and rare hematological disease that affects the production of blood cells. One aim of treatment is to maintain the blood-cell count to near-normal levels. This is mainly achieved with hematopoietic- growth factors and transfusions. Our objective was to determine the cost of supportive treatment/care for patients with low and intermediate I risk myelodysplastic syndrome in respect to private healthcare plans in Brazil. Method We adapted the National Comprehensive Cancer Network treatment guidelines for intermediate risk myelodysplastic syndrome patients to the Brazilian reality, adopting a decision tree to explore treatment combinations. Then, we calculated the costs for each branch of the tree, according to national prices. We also estimated total costs for a cohort of 100 patients, distributed across treatment combinations according to the expected epidemiology. We assumed a horizon of one year of treatment. Results The mean cost of treatment for low and intermediate I risk myelodysplastic syndrome is US$ 42,758/patient/year. This cost can vary from US$ 24,282 to US$ 121,952, according to patient characteristics and the treatment used. Overall, patients that require immunotherapy with antithymocyte globulins are associated with the highest cost. Those that achieve disease stability solely with the use of erythropoietin were associated with the lowest cost. Conclusion In Brazil, treatment of low and intermediate I risk myelodysplastic syndrome is associated with a mean cost of the order of US$ 42,700/patient/year. New types of therapy have the potential to change this scenario if they can diminish the requirements for supportive care. PMID:23284240

The recommendations proposed by the Sjögren's Syndrome Committee of the Brazilian Society of Rheumatology for the treatment of Sjögren's syndrome were based on a systematic review of literature in Medline (PubMed) and the Cochrane databases until October 2014 and on expert opinion in the absence of studies on the subject. 131 items classified according to Oxford & Grade were included. These recommendations were developed in order to guide the appropriate management and facilitate the access to treatment for those patients with an appropriate indication, considering the Brazilian socioeconomic context and pharmacological agents available in this country.

Myoclonus dystonia syndrome is often misdiagnosed in young children and appropriate treatment is delayed, which has a negative impact on motor development, participation, and emotional well-being. In severely affected patients, deep brain stimulation of the globus pallidus internus has been used successfully to treat both dystonia and myoclonus. Here, the authors present a case of early successful treatment of myoclonus dystonia syndrome by pallidal deep brain stimulation in a patient at the age of 17 years leading to 83% reduction in dystonia score and 89% reduction in myoclonus. The patient gained significant improvement in motor function as well as increased participation and reduced stigma.

Metabolic syndrome is defined as a set of coexisting metabolic disorders that increase an individual's likelihood of developing type 2 diabetes, cardiovascular disease and stroke. Medicinal plants, some of which have been used for thousands of years, serve as an excellent source of bioactive compounds for the treatment of metabolic syndrome because they contain a wide range of phytochemicals with diverse metabolic effects. In order for botanicals to be effectively used against metabolic syndrome, however, botanical preparations must be characterized and standardized through the identification of their active compounds and respective modes of action, followed by validation in controlled clinical trials with clearly defined endpoints. This review assesses examples of commonly known and partially characterized botanicals to describe specific considerations for the phytochemical, preclinical and clinical characterization of botanicals associated with metabolic syndrome.

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here. PMID:19117905

By definition, intestinal failure prevails when oral compensation is no longer feasible and parenteral support is necessary to maintain nutritional equilibrium. In the past, conventional treatment has mainly focused on "making the most of what the short bowel syndrome patient still had" by optimizing remnant intestinal function through dietary interventions, antidiarrheals and antisecretory agents. However, modern treatment options are in the near horizon, and the increased understanding of the mediators for intestinal adaptation will lead to the expansion of the limited treatment armamentarium in short bowel syndrome patients with intestinal failure. The clinical meaningfulness and implications of the observed effects of growth hormone, glutamine, glucagon-like peptide 2 (GLP-2) and the dipeptidyl peptidase-4 degradation resistant analog, teduglutide, is presented in this review and balanced against treatment related adverse events and possible unfavourable effects of long-term, possibly lifelong, treatments.

Thoracic outlet syndrome (TOS) can affect the skill of instrumental musicians. This paper details the way in which symptomatic TOS affects the musician and describes two cases of symptomatic TOS in a drummer and a violinist. Evaluation tools and treatment techniques are described.

This guide provides assessment, education, and treatment strategies for children with Asperger syndrome. It discusses assessment, and provides guidelines for securing and implementing services and determines appropriate placement. The following recommendations are also provided for general intervention strategies: (1) skills, concept, appropriate…

Increasing numbers of long-term cancer survivors face important treatment related adverse effects. Cancer treatment induced metabolic syndrome (CTIMetS) is an especially prevalent and harmful condition. The aetiology of CTIMetS likely differs from metabolic syndrome in the general population, but effective treatment and prevention methods are probably similar. In this review, we summarize the potential mechanisms leading to the development of CTIMetS after various types of cancer treatment. Furthermore, we propose a safe and accessible method to treat or prevent CTIMetS through lifestyle change. In particular, we suggest that a lifestyle intervention and optimization of energy balance can prevent or mitigate the development of CTIMetS, which may contribute to optimal survivorship care.

Acquired von Willebrand syndrome (aVWS) accounts for 22% of patients with abnormal von Willebrand factor. Most patients with known pathophysiological mechanisms suffer from cardiovascular, myeloproliferative and lymphoproliferative disorders. Less frequent associations are of autoimmune origin, due to hyperfibrinolysis, adsorption to tumor cells, reduced synthesis and prolonged circulation. The mechanisms leading to aVWS is hitherto not known in patients with liver and kidney diseases, drug use, glycogen storage disease, virus infections and at least 18 other disease entities. Diagnosis is complicated by the battery of tests needed, and their inherent rather low sensitivity and specificity for aVWS. Thus, even in acute bleeding situations it may take days until a firm diagnosis is settled and specific therapies can be initiated. The main aim is to shed more light onto this, compared with inherited von Willebrand disease, rare disease which affects at least 2-3% of the older population.

Complex regional pain syndrome (CRPS) applies to a variety of conditions in which symptoms such as allodynia and hyperalgesia predominate along with hyperpathia and vasomotor/sudomotor disturbances. The incidence of CRPS in the chronic pain population varies and is difficult to determine, though it appears to affect women more than men. Treatment is multidisciplinary, and recovery of function and the reduction of pain are the main goals of treatment;this article addresses some of the interventional modalities that are used.

Irritable bowel syndrome represents a common gastrointestinal disorder that significantly impacts patients' lives. It is defined by Rome II criteria and characterized by abdominal pain and bloating associated with changes in bowel habit. Visceral hypersensitivity is currently considered a biological marker for the disease. Current therapeutic treatments include the use of fiber supplements, antidiarrheal agents, laxatives, antispasmodics, tricyclic antidepressants and serotonergic agents. Through a proper understanding of the diagnostic criteria, pathophysiology and treatment options, this disorder can be treated effectively in many patients.

Autism is a neurodevelopmental disorder consisting of a constellation of symptoms that sometimes occur as part of a complex disorder characterized by impairments in social interaction, communication and behavioral domains. It is a highly disabling disorder and there is a need for treatment targeting the core symptoms. Although autism is accepted as highly heritable, there is no genetic cure at this time. Autism is shown to be linked to several genes and is a feature of some complex genetic disorders, including fragile X syndrome (FXS), fragile X premutation involvement, tuberous sclerosis and Rett syndrome. The term autism spectrum disorders (ASDs) covers autism, Asperger syndrome and pervasive developmental disorders (PDD-NOS) and the etiologies are heterogeneous. In recent years, targeted treatments have been developed for several disorders that have a known specific genetic cause leading to autism. Since there are significant molecular and neurobiological overlaps among disorders, targeted treatments developed for a specific disorder may be helpful in ASD of unknown etiology. Examples of this are two drug classes developed to treat FXS, Arbaclofen, a GABA(B) agonist, and mGluR5 antagonists, and both may be helpful in autism without FXS. The mGluR5 antagonists are also likely to have a benefit in the aging problems of fragile X premutation carriers, the fragile X -associated tremor ataxia syndrome (FXTAS) and the Parkinsonism that can occur in aging patients with fragile X syndrome. Targeted treatments in FXS which has a well known genetic etiology may lead to new targeted treatments in autism.

Treatment of dystonia is a complex problem of current neurology due to the etiological and neurochemical heterogeneity of this clinical syndrome. Central cholinolytics is a most effective group of drugs for patients with dystonia and dystonic tremor. The authors present the results of the successful treatment with biperiden (akineton), a centrally active anticholinergic drug with additional peripheral choline- and ganglion-blocking effect in cervical dystonia. The time of response to treatment and duration of clinical effect, its possible predictors are analyzed. Perspectives of using cholinolytics in treatment of different forms of dystonic hyperkineses are discussed.

Irritable bowel syndrome (IBS) is one of the most common gastrointestinal disorders causing patients to seek medical treatment. It is relatively resource intensive and the source of significant morbidity. Recent insights into the pathophysiology and treatment of IBS has given clinicians more options than ever to contend with this disorder. The purpose of our paper is to review older, “classic” treatments for IBS as well as newer agents and “alternative” therapies. We discuss the evidence base of these drugs and provide context to help develop appropriate treatment plans for IBS patients. PMID:25083054

Irritable bowel syndrome (IBS) is one of the most common gastrointestinal disorders causing patients to seek medical treatment. It is relatively resource intensive and the source of significant morbidity. Recent insights into the pathophysiology and treatment of IBS has given clinicians more options than ever to contend with this disorder. The purpose of our paper is to review older, "classic" treatments for IBS as well as newer agents and "alternative" therapies. We discuss the evidence base of these drugs and provide context to help develop appropriate treatment plans for IBS patients.

Fibromyalgia syndrome is a nonarticular rheumatic disorder characterised by diffuse musculoskeletal pain, stiffness, fatigue, disturbed sleep and tender points. The pathophysiology is not well understood and treatment remains a challenge. Although pharmacological therapy is still the primary treatment choice, a long-term effective intervention has not been demonstrated yet. Thus, besides pharmacotherapy, other multimodal interventions are often used. Exercise and cognitive-behavioural treatments which exist in the multimodal approach and encompass largely self-managed strategy, are reviewed in this article. Although, there is a great number of exercise studies, the large diversity of outcome measures and measurement instruments that have been used in studies, varying intensity and types of exercises, small sample sizes, high attrition rates, large variability in baseline function, symptom severity and psychosocial status limit to come to a conclusion about the efficacy of exercise in the treatment of fibromyalgia syndrome. There are also inconclusive results about the efficacy of cognitive-behavioural treatment because of limited number of studies with small sample sizes of patients with fibromyalgia syndrome. However, the results of the trials overall demonstrate the beneficial effects of both different types of exercise and cognitive-behavioural treatment, on the other hand, there is still a need for larger, more systematic and randomised controlled trials to evaluate the effectiveness.

Ossification of the femoral attachment of the medial collateral ligament (MCL) of the knee with associated pain and restricted movements is rare and is characteristic of the Pellegrini-Stieda (PS) syndrome. Although in mild cases conservative treatment is often successful, patients with more significant bone formation and persistent symptoms require surgical excision. We describe a case of PS syndrome with a description of the surgical technique consisting of excision of the bony lesion and reconstruction of the MCL by using the adductor magnus tendon.

A patient had a cutaneous T-cell lymphoma, appearing clinically as Sezary syndrome, that developed two years after successful treatment of Hodgkin's disease with combined radiotherapy and chemotherapy. Clinical, histologic, and electron microscopic observations were made during the course of the Sezary syndrome. The malignant cells in the cell infiltrates and in the peripheral blood were characterized as T cells. There is a possible relationship of the cutaneous T-cell lymphoma to impaired immune surveillance in this patient and to the potential carcinogenicity of combined radiotherapy and chemotherapy.

The hypereosinophilic syndromes continue to challenge our clinical acumen and skills. Prednisone, hydroxyurea, and interferon alpha 2b are three of the oldest agents that allow control of eosinophilia and its devastating clinical consequences. They still work. As our experience with them has grown, it has become evident that use of these agents in combination will control eosinophilia in most patients. Moreover, with time, the doses can frequently be reduced. Even with the advent of newer agents for treatment of hypereosinophilic syndromes, these three medications still afford an excellent, cost-effective avenue for disease management.

Patients with exposure to Pfiesteria toxin have developed an illness, Pfiesteria-human illness syndrome, characterized by skin lesions, headache, myalgias, conjunctival irritation, bronchospasm, abdominal pain, secretory diarrhea, recent memory loss, and difficulties with number sequencing. Not all patients demonstrated all features of the syndrome. The natural history of Pfiesteria-human illness syndrome shows that most patients' symptoms improve without treatment. This article reports the improvement of symptoms that had persisted for over one month in five patients, which the author attributes to treatment with cholestyramine. These patients were self-referred to the Pocomoke River Rash and Associated Illness Center, a clinic that opened on August 6, 1997, in response to the need for a central facility for diagnosis of human illness acquired from Pfiesteria. Until the Pfiesteria toxin(s) is isolated and characterized, and laboratory diagnostic tests are available, physicians must be able to recognize Pfiesteria-human illness syndrome and intervene when symptoms, particularly memory loss and diarrhea, cause significant impairment in daily activities. There are no precedents for the treatment of Pfiesteria or any dinoflagellate toxin-related human illness reported in the literature. The successful use of cholestyramine reported here may provide a model for understanding dinoflagellate toxin physiology in the human body. This paper reports an uncontrolled observational study. When identification of the toxin is completed, a basis for properly controlled studies will be available.

Summary Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. After this brief explanation it is clear that these anatomical abnormalities may have a negative impact on the ability to perform essential functions. Due to the complexity of the syndrome a multidisciplinary (respiratory, cerebral, maxillo-mandibular, dental, ophthalmic and orthopaedic) approach is necessary in treating the psychological, aesthetic and functional issues. The aim of this paper is to analyse the different functional issues and surgical methods trying to enhance results through a treatment plan which includes different specialities involved in Apert syndrometreatment. Reduced intellectual capacity is associated to the high number of general anaesthesia the small patients are subject to. Therefore the diagnostic and therapeutic treatment plan in these patients has established integrated and tailored surgical procedures based on the patients’ age in order to reduce the number of general anaesthesia, thus simplifying therapy for both Apert patients and their family members. PMID:26330906

Fatigue is a common complaint in general practice and is often associated with psychiatric and psychosocial problems and demoralization. Although the Centers for Disease Control definition of chronic fatigue syndrome (CFS) excludes pre-existing psychiatric illness, common psychosocial problems short of a clinical disorder (such as irritability, difficulty in thinking, inability to concentrate, depression and sleep disturbance) overlap with the criteria for CFS. Psychological states can affect the course of CFS or become confused in the patient's and doctor's mind with the course of infection. The core dilemma in practice is how aggressively to pursue a possible basis for CFS when it persists in the absence of an identifiable external cause. Possibilities for exploration are numerous and potentially expensive. In practice, the persistence of doctors depends on the patient's illness behaviour, on financial and organizational factors, and on the culture of medical care and practice styles. It is essential to differentiate the appropriate management of CFS from scientific study where intensive investigation may be warranted. In practice doctors should proceed in a manner that conveys concern, supports function, and avoids dysfunctional illness behaviour and inadvertent legitimization and reinforcement of disability.

Severe preeclampsia with hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome is a leading cause of maternal and neonatal morbidity and mortality worldwide. Occurrence at an extremely premature gestational age is most challenging as there are dichotomous imperatives: delivery as definitive therapy for maternal health vs. prolongation of pregnancy to avoid prematurity and associated morbidities. We describe a patient presenting with severe preeclampsia/HELLP syndrome at 26 weeks gestation that was treated with Eculizumab, a targeted inhibitor of complement protein C5, which resulted in marked clinical improvement and complete normalization of lab parameters. Pregnancy was prolonged 17 days, likely resulting in a reduction of neonatal morbidity with its associated short and long-term health care costs. Successful use of Eculizumab in this case suggests that complement inhibition may be an effective treatment strategy for severe preeclampsia/HELLP syndrome.

Postural orthostatic tachycardia syndrome (POTS) is one of the most common presentation of orthostatic intolerance. The syndrome is described as a multifactorial affliction. Main symptoms consist of persistent orthostatic tachycardia (heart rate increase at least 30 beats/min, lasting at least 10 min after assumic vertical position) with high noradrenalin serum concentration (measured in stand-up position). Additionally patients with POTS tend to have lover total blood volume. POTS is generally classified into dysatonomia disorders Symptoms in patients affected with POTS are chronic. The syndrome occurs predominantly in young women (approximately 80%). Due to complexity and variable intensity of symptoms POTS can severely impair daily activity and quality of life in otherwise healthy people. The correct diagnosis and identification of potential pathophysiological mechanisms of POTS is necessary before treatment administration. Adequate therapy can significantly reduce symptoms giving the patients a chance for a normal life.

Lennox-Gastaut syndrome is a severe childhood epileptic syndrome with encephalopathy and multiple seizure types, which are often intractable to treatment. Most of these children will ultimately become mentally retarded and dependent on others for their daily care. Antiepileptic drugs are the mainstay of treatment, however, no particular drug is entirely effective. Apart from the use of antiepileptic drugs, nonpharmacologic treatments are also considered (i.e., callosotomy, ketogenic diet, and vagus nerve stimulation), which have proven to be partially effective. We prospectively studied 14 children (11 months-8 years of age) with medication-resistant Lennox-Gastaut syndrome, being treated with nitrazepam (open-label compassionate protocol). We compared the 1-month baseline seizure frequency with the median seizure rate reduction during the first 12 months of treatment with nitrazepam. The median seizure rate reduction during the first 12 months of treatment with nitrazepam was 41% (P = 0.001), with more than 50% seizure reduction in 60% of patients. Two patients became seizure free, five patients demonstrated at least 50% reduction in seizure rates, six patients had at least 25% seizure rate reduction, and one patient did not respond. No patient had any serious adverse effects. Side effects included sedation in six children (40%) and drooling in nine patients (60%).

Fibromyalgia is a chronic pain disorder characterized by widespread pain, stiffness, insomnia, fatigue and distress. Several randomized controlled trials (RCTs) have shown moderate effectiveness of pharmacological therapies for fibromyalgia pain. Evidence from these trials suggests that pharmacological therapy can not only improve pain but also fatigue, function and well-being in patients with fibromyalgia. Duloxetine and milnacipran, two highly selective serotonin-norepinephrine (noradrenaline) reuptake inhibitors, and the alpha(2)delta agonist pregabalin have been approved by the US FDA for the treatment of fibromyalgia symptoms. In general, about half of all treated patients seem to experience a 30% reduction of symptoms, suggesting that many patients with fibromyalgia will require additional therapies. Thus, other forms of treatment, including exercise, cognitive behavioural therapies and self-management strategies, may be necessary to achieve satisfactory treatment outcomes. Despite promising results of pilot trials, RCTs with dopamine receptor agonists and sodium channel antagonists have so far been disappointing for patients with fibromyalgia. However, new pharmacological approaches for the treatment of fibromyalgia pain and insomnia using sodium oxybate appear to be promising.

Carcinoid syndrome (CSy) is a constellation of symptoms that may commonly present in patients with well differentiated neuroendocrine tumors (NETs), with somatostatin analogs (SSAs) being the first-line option for symptom management. However, symptomatic progression eventually occurs and in this scenario of a refractory CSy; several treatment options have been studied such as dose escalation of SSA, interferon and liver-directed therapies. Nevertheless, recent phase III trials have contributed to the understanding and management of this condition. We performed a comprehensive review of interventional studies examining refractory CSy to provide the evidence for current treatment options and propose a treatment sequence. PMID:28203303

Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid malignancies with variability in clinical presentation, disease trajectory, treatment goals, and expected outcomes. The treatment of patients with MDS, therefore, often differs from patient to patient. Tools are needed to aid effective communication with patients, their caregivers, and their dedicated team of healthcare professionals. The use of methods often employed in clinical trials can help healthcare providers diagnose and classify risk status, track trends within patient responses, manage adverse events, set treatment expectations, and provide ongoing supportive care. This article discusses several tools and strategies available for the management of patients with MDS throughout the continuum of their disease.

The recognition, evaluation, and early treatment of nephrotic syndrome in infants and children originate from physicians dating back to Hippocrates. It took nearly another 1000 years before the condition was described for its massive edema requiring treatment with herbs and other remedies. A rich history of observations and interpretations followed over the course of centuries until the recognition of the combination of clinical findings of foamy urine and swelling of the body, and measurements of urinary protein and blood analyses showed the phenotypic characteristics of the syndrome that were eventually linked to the early anatomic descriptions from first kidney autopsies and then renal biopsy analyses. Coincident with these findings were a series of treatment modalities involving the use of natural compounds to a host of immunosuppressive agents that are applied today. With the advent of molecular and precision medicine, the field is poised to make major advances in our understanding and effective treatment of nephrotic syndrome and prevent its long-term sequelae. PMID:27303658

Objective: The objective is to formulate clinical practice guidelines for treating Cushing's syndrome. Participants: Participants include an Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer. The European Society for Endocrinology co-sponsored the guideline. Evidence: The Task Force used the Grading of Recommendations, Assessment, Development, and Evaluation system to describe the strength of recommendations and the quality of evidence. The Task Force commissioned three systematic reviews and used the best available evidence from other published systematic reviews and individual studies. Consensus Process: The Task Force achieved consensus through one group meeting, several conference calls, and numerous e-mail communications. Committees and members of The Endocrine Society and the European Society of Endocrinology reviewed and commented on preliminary drafts of these guidelines. Conclusions: Treatment of Cushing's syndrome is essential to reduce mortality and associated comorbidities. Effective treatment includes the normalization of cortisol levels or action. It also includes the normalization of comorbidities via directly treating the cause of Cushing's syndrome and by adjunctive treatments (eg, antihypertensives). Surgical resection of the causal lesion(s) is generally the first-line approach. The choice of second-line treatments, including medication, bilateral adrenalectomy, and radiation therapy (for corticotrope tumors), must be individualized to each patient. PMID:26222757

Obliterative bronchiolitis (OB) or the clinical correlate bronchiolitis obliterans syndrome (BOS) is the main cause of late morbidity and mortality after heart-lung and lung transplantation. Although several risk factors for the development of OB/BOS have already been identified, very effective preventive therapy remains Utopian, although there has been much improvement in recent years. This paper attempts to summarize current experience in the medical treatment of OB/BOS, either by tackling the known risk factors for the development of OB/BOS or by changing the immunosuppressive drug regimen for treating established OB/BOS. The current treatment options, however, are rather anecdotal and mostly single-centre experiences. Therefore, multicentre studies are definitely needed to try to identify the most appropriate drug regimen either to prevent and to treat obliterative bronchiolitis/bronchiolitis obliterans syndrome.

Patients with Apert syndrome have bilateral coronal craniosynostosis, along with a distinguishing feature of their many deformity, called tower skull. Surgical correction of this deformity is the mainstay of treatment. We describe 3 patients molded top skull after front bone osteotomy orbital bar advancement. This successfully restricted growth of their top skull while allowing growth in other dimensions. Utilization of top-skull molding after cranial surgery shows promise of satisfaction in this setting.

Burning mouth syndrome (BMS) is defined as a chronic pain condition characterized by a burning sensation in the clinically healthy oral mucosa. It is difficult to diagnose BMS because there is a discrepancy between the severity, extensive objective pain felt by the patient and the absence of any clinical changes of the oral mucosa. This review presents some aspects of BMS, including its clinical diagnosis, classification, differential diagnosis, general treatment, evolution and prognosis.

ABSTRACT Objective: To compare the efficacy of platelet rich plasma (PRP) against corticosteroid on the treatment of trochanteric pain syndrome. Methods: From July 2011 to November 2012, eighteen patients (20 hips) with trochanter pain syndrome were randomized in two groups and treated with platelet rich plasma or triamcinolone infiltration guided by ultrasound. Pain and function were evaluated prior to the intervention and after 10, 30 and 60 days, through the Facial Expressions Scale for Pain and the Western Ontario McMaster and Harris Hip Score questionnaires. Inter-group analysis was performed by Student t-test and intragroup analysis by ANOVA, followed by Bonferroni post hoc test. Statistical significance was set at p <0.05. Results: There was no difference between the groups. The triamcinolone group showed pain reduction (p=0.004) and improved function (p=0.036) through the Harris Hip Score questionnaire at 10, 30 and 60 days after treatment, when compared with the pre- intervention period. The platelet rich plasma group showed no statistical improvement in any of the variables. Conclusion: Up to 60 days, PRP infiltration has no influence on pain relief and function improvement in trochanteric syndrometreatment. Level of Evidence II, Prospective Comparative Study. PMID:28243176

Overactive bladder and urgency incontinence are common conditions generally treated with oral anticholinergic medication. Despite the development of new antimuscarinic substances, many patients are refractory to or cannot tolerate the oral therapy due to severe side effects. Intravesical instillation therapy can provide an alternative method to manage detrusor overactivity. Intravesical instillation of anticholinergics such as oxybutynin and trospium chloride can achieve cholinergic blockade without producing systemic side effects. Botulinum toxin type A injections into the detrusor have been shown to increase bladder capacity and to decrease detrusor overactivity for 6 or more months. Intravesical local anesthetics such as lidocaine and bupivacaine block the conduction of unmyelinated C fibers which results in an increase of functional bladder capacity. Intravesical capsaicin and resiniferatoxin also affect the afferent C fiber innervation of the bladder, leading to a decrease in detrusor overactivity and also an increased bladder capacity. The use of intravesical anticholinergics and of local anesthetic medications, both known for their short-term efficacy, is limited due to the necessity of daily intermittent catheterization. In conclusion, intravesical therapies can provide an alternative treatment for the management of overactive bladder.

Some patients with autoimmune liver disease have characteristics of cholestasis, as well as of autoimmune hepatitis. Despite the fact that this is a relatively frequent clinical condition seen in referral centers for liver diseases, there is little evidence as regards the clinical management of these syndromes due to their low prevalence and the lack of standardized definitions and diagnostic criteria. This is relevant, given that published studies report that there is a lower therapeutic response and poorer outcome in patients with overlap syndrome than in those presenting solely with autoimmune hepatitis. Whether overlap syndromes are distinct entities or the presence of 2 concurrent diseases is still a subject of debate. They should be suspected in autoimmune hepatitis patients that present with signs of cholestasis, as it is known that overlap behavior tends to be more aggressive, with higher rates of cirrhosis and the need for liver transplantation. Treatment response is also poorer and should be directed at the predominant component. Standardized definitions are necessary so that these syndromes can be studied in controlled clinical trials.

Presently, modern medicine does not offer any disease-modifying treatment for meconium aspiration syndrome (MAS). Several medications with already established safety profiles when employed for similar or other conditions could be useful for MAS treatment. N-Acetylcysteine and DNAse have the capability to reduce viscosity and thickness of meconium by breaking disulfide bonds and slicing DNA, respectively. N-Acetylcysteine, antiprotease drugs, or low pH buffer solutions may have the capability to neutralize meconium's digestive enzymes responsible for lung damage in patients with MAS. All these compounds have great potential to reduce meconium's pathogenic properties which in turn could alleviate MAS severity.

The U.S. Food and Drug Administration (FDA) recently approved Neupogen(®) (filgrastim) for the treatment of patients with radiation-induced myelosuppression following a radiological/nuclear incident. It is the first medical countermeasure currently approved by the FDA for this indication under the criteria of the FDA "animal rule". This article summarizes the consequences of high-dose radiation exposure, a description of the hematopoietic acute radiation syndrome (H-ARS), the use of hematopoietic growth factors in radiation accident victims and current available treatments for H-ARS with an emphasis on the use of Neupogen in this scenario.

Complex regional pain syndrome can be a debilitating disorder, which, in its earliest stages, can be prevented by aggressive rehabilitation based on reactivation. It is critical to follow international criteria on making the diagnosis; overdiagnosis can lead to inappropriate interventions and further disability. When present, early recognition with reactivation is the cornerstone of treatment. This article presents a phased approach to treatment that suggests movements of nonresponders quickly to more integrated levels of care. Some commonly used invasive interventions, such as sympathectomy and spinal cord stimulation, have not been proved effective; these unproven and potentially harmful therapies should be avoided.

A 34-year-old female patient was admitted with the complaints of inability to stand upright, palpitations, dizziness, and fatigue in the upright posture for the last one year. She was found to stand upright for less than one minute without symptoms. Tilt table testing showed that, compared to baseline her heart rate increased 55 beats/min in the fifth minute of the test with the symptoms of palpitations, fatigue and sweating without any significant change in her blood pressure. Postural orthostatic tachycardia syndrome was diagnosed, and pyridostigmine treatment was started. Four months after treatment her symptoms were relieved so that she was able to function as a nurse.

Dermatologists are in a key position to treat the manifestations of polycystic ovary syndrome (PCOS). The management of PCOS should be tailored to each woman's specific goals, reproductive interests, and particular constellation of symptoms. Therefore, a multidisciplinary approach is recommended. In part II of this continuing medical education article, we present the available safety and efficacy data regarding treatments for women with acne, hirsutism, and androgenetic alopecia. Therapies discussed include lifestyle modification, topical therapies, combined oral contraceptives, antiandrogen agents, and insulin-sensitizing drugs. Treatment recommendations are made based on the current available evidence.

Spontaneous, nontraumatic retroperitoneal hemorrhage or Wunderlich syndrome (WS) is a rare but potential life-threatening condition. In most patients a bleeding renal neoplasm is the cause of the retroperitoneal hematoma. The management of this condition includes a conservative approach in the hemodynamically stable patients and active treatment in the unstable patients. Active treatment includes angioembolization or surgery. If angioembolization is not available open surgery is in most cases the preferred approach. We present a patient with a spontaneously ruptured kidney due to a central renal angiomyolipoma, which was treated by laparoscopic nephrectomy. PMID:25852958

Spontaneous, nontraumatic retroperitoneal hemorrhage or Wunderlich syndrome (WS) is a rare but potential life-threatening condition. In most patients a bleeding renal neoplasm is the cause of the retroperitoneal hematoma. The management of this condition includes a conservative approach in the hemodynamically stable patients and active treatment in the unstable patients. Active treatment includes angioembolization or surgery. If angioembolization is not available open surgery is in most cases the preferred approach. We present a patient with a spontaneously ruptured kidney due to a central renal angiomyolipoma, which was treated by laparoscopic nephrectomy.

Acute aortic syndromes (AAS) are life-threatening vascular conditions of the thoracic aorta presenting with acute pain as the leading symptom in most cases. The incidence is approximately 3-5/100,000 in western countries with increase during the past decades. Clinical suspicion for AAS requires immediate confirmation with advanced imaging modalities. Initial management of AAS addresses avoidance of progression by immediate medical therapy to reduce aortic shear stress. Proximal symptomatic lesions with involvement of the ascending aorta are surgically treated in the acute setting, whereas acute uncomplicated distal dissection should be treated by medical therapy in the acute period, followed by surveillance and repeated imaging studies. Acute complicated distal dissection requires urgent invasive treatment and thoracic endovascular aortic repair has become the treatment modality of choice because of favorable outcomes compared to open surgical repair. Intramural hematoma, penetrating aortic ulcers, and traumatic aortic injuries of the descending aorta harbor specific challenges compared to aortic dissection and treatment strategies are not as uniformly defined as in aortic dissection. Moreover these lesions have a different prognosis. Once the acute period of aortic syndrome has been survived, a lifelong medical treatment and close surveillance with repeated imaging studies is essential to detect impending complications which might need invasive treatment within the short-, mid- or long-term.

Fragile X syndrome (FXS) is an inherited disorder that results in intellectual disability and a characteristic behavioral profile that includes autism spectrum disorder, attention deficit hyperactivity disorder, sensory hypersensitivity, hyperarousal, and anxiety. The epigenetic silencing of FMR1 and the consequent absence of its protein product, FMRP, is the most common cause of fragile X. The development of animal models of fragile X syndrome 20 years ago has produced a considerable increase in our understanding of the consequences of the absence of FMRP on the structure and function of the nervous system. Some of the insights gained have led to proposals of treatment strategies that are based on cellular and molecular changes observed in animals lacking FMRP. One such proposal is treatment with lithium, a drug with a long history of clinical efficacy in psychiatry and a drug with newly described uses in degenerative disorders of the nervous system. Lithium treatment has been studied extensively in both mouse and fruit fly models of FXS, and it has been shown to reverse numerous behavioral, physiological, cellular, and molecular phenotypes. A report of a pilot clinical trial on a limited number of adult FXS patients indicated that measurable improvements in behavior and function were seen after 2 months of lithium treatment. A double-blind clinical trial of lithium treatment in FXS patients is now needed.

Patients with burning mouth syndrome (BMS) report burning sensation and pain involving the tongue and oral mucosa without any apparent medical or dental cause. The pathogenesis of this syndrome remains unclear and there is currently no standard treatment. BMS is, therefore, often misdiagnosed and its management is complex. This lack of clinical expertise may result in decreased health-related quality of life and increased psychological distress among patients with BMS. The present case report involves a 77-year-old female patient with BMS refractory to conventional treatment with nerve block and medication, who was successfully treated with duloxetine. Duloxetine may become a new therapeutic option in the management of BMS.

Growth hormone (GH) insensitivity is a pathological state characterized by a disturbance of the physiological relationship between GH secretion, synthesis of insulin-like growth-factor I (IGF-1) and the biological actions of GH. Laron syndrome, the prototype for GH insensitivity, is most often due to GH receptor deficiency. However, this syndrome is heterogeneous in terms of growth characteristics, bio-chemical features and, most importantly, genetic defects. Recent data have indicated that partial GH receptor deficiency could be involved in children with apparently idiopathic short stature. Laron syndrome, because of extreme growth deficiency and a lack of alternative treatment, was the first clinical situation in which recombinant human IGF-1 was used. IGF-1 accelerates growth rate in most patients, induces subtle modifications of the craniofacies and decreases fat mass. However, it is still too early to evaluate the long-term effects of IGF-1 on final height. Tolerance to the drug has been excellent in all reported trials. The major (but rare) side effects are transient intracranial hypertension and hypokalemia. Generalization of data obtained in Laron syndrome to other clinical situations should take account of the profound alterations in IGF-1 pharmacokinetics resulting from a deficiency in IGF-binding proteins.

The estimated prevalence of irritable bowel syndrome (IBS) in Western countries is 7–15%, with a female:male ratio of 2–2.5:1 in IBS patients who seek healthcare services; however, the female predominance is lower in the general population. IBS has a significant impact on health-related quality of life and is associated with a significant healthcare and economic burden. Management of IBS is comprised of general measures and pharmacologic and nonpharmacologic treatment. However, there are ongoing efforts to find more effective therapeutic approaches. As advancements in the understanding of the pathophysiology of IBS continue to grow, new and effective treatments with novel mechanisms of action that have the potential to improve relief of IBS symptoms over current treatments are likely to be developed. This article provides an overview of current and emerging therapies for IBS and also highlights sex and gender differences in clinical trials and treatment response. PMID:19072463

Currently, the goal of treatment for those with irritable bowel syndrome (IBS) is to improve the quality of life through a reduction in symptoms. While the majority of treatment approaches involve the use of traditional medicine, more and more patients seek out a non-drug approach to managing their symptoms. Current forms of non-drug psychologic or mind/body treatment for IBS include hypnotherapy, cognitive behavioral therapy and brief psychodynamic psychotherapy, all of which have been proven efficacious in clinical trials. We propose that incorporating the constructs of mindfulness and acceptance into a mind/body psychologic treatment of IBS may be of added benefit due to the focus on changing awareness and acceptance of one's own state which is a strong component of traditional and Eastern healing philosophies. PMID:18317547

A satisfactory explanation of the hyperkinetic syndrome in children has been lacking. Feingold has advanced the hypothesis that naturally occurring salicylates and artificial food additives may cuase this syndrome in certain children , who have a genetically determined predisposition. Following Feingold's dietary prescription, an elimination diet relevant to the foods available in Sydney was developed. The treatment regime is described, and the results of its application to 15 hyperkinetic children are presented. The parents of 10 children are "quite certain" and those of three others "fairly certain" that their children's behaviour not only improved substantially with the diet, but also relapsed promptly when significant dietary infringements occurred. A possible ecological implication of these findings is briefly discussed.

Opsoclonus-myoclonus syndrome (OMS) is a rare and primarily immune-mediated disease in children and adults. The main symptoms include opsoclonus, myoclonus and ataxia. In children, the symptoms also include irritability, and, over a long-term course, learning and behavioural disturbances. OMS can be idiopathic, parainfectious or occur as a paraneoplastic (tumour-associated) syndrome. Paraneoplastic OMS in children is almost exclusively associated with neuroblastoma, whereas in adults, small cell lung cancer and breast cancer are the main underlying tumours. An autoimmune pathophysiology is suspected because childhood OMS patients have functionally active autoantibodies, proinflammatory changes in the cytokine network and immunotherapy responses. Children appear to respond regularly to immunosuppressive treatment. However, although the neurological symptoms show a good response, most children continue to show neuropsychological disturbances.

We report a case of morning glory syndrome with retinal detachment. A slit-like retinal break at the edge of the excavated disc anomaly provided a direct communication between the subretinal space and the vitreous cavity. Retinal reattachment and useful vision was achieved after a single procedure of vitrectomy and gas tamponade. We believe that identification of the retinal break, removal of epipapillary fibroglial tissue and its traction force, the avoidance of perfluorocarbon liquid and the appropriate use of long-acting gas as endotamponade, all contributed to the favorable outcome. This is more evidence supporting the rhegmatogenous theory of retinal detachment in morning glory syndrome. A literature review of the clinical presentations and treatments of similar cases is included.

Short-lasting unilateral neuralgiform headache attacks with conjuntival injection and tearing (SUNCT) is considered a rare trigeminal autonomic cephalgias, a group of primary headache disorders characterized by brief episodes of severe unilateral headache in the distribution territory of the trigeminal nerve, accompanied by prominent ipsilateral and cranial parasympathetic autonomic features. The present report describes a SUNCT syndrome in a 64-year-old male who had been diagnosed with trigeminal neuralgia several years ago. The patient reported stabbing pain in the orbital zone and in the left upper maxillary region, of great intensity, brief duration, and a frequency of 20-100 attacks a day. Pain episodes were accompanied by conjunctival injection and tearing. Based on the anamnesis, clinical examination and a magnetic resonance imaging scan, episodic SUNCT syndrome was diagnosed and pharmacological treatment with topiramate was started. This reduced the intensity and number of attacks to 3-6 a day. Key words:Trigeminal autonomic cephalgias, SUNCT, Cluster headache, topiramate.

Purpose of review To provide an update on the genes associated with Cushing’s syndrome in children, as well as to familiarize the clinician with recent treatment guidelines and outcome data for children with Cushing’s syndrome. Recent findings The list of genes associated with Cushing’s syndrome continues to grow. In addition, treatment for childhood Cushing’s syndrome is evolving. As long-term follow-up data on children becomes available, clinicians need to be aware of the issues that require attention. Summary Knowledge of the specific genetic causes of Cushing’s syndrome has potential implications for treatment, surveillance, and counseling. Advances in surgical technique, radiation modalities, and medical therapies offer the potential for additional treatment options in Cushing’s syndrome. Early identification and management of post-treatment morbidities in children treated for Cushing’s syndrome is crucial in order to optimize care. PMID:25517021

ABSTRACT Introduction: Deep brain stimulation (DBS) has become a standard therapy for the treatment of select cases of medication refractory essential tremor and Parkinson’s disease however the effectiveness and long-term outcomes of DBS in other uncommon and complex tremor syndromes has not been well established. Traditionally, the ventralis intermedius nucleus (VIM) of the thalamus has been considered the main target for medically intractable tremors; however alternative brain regions and improvements in stereotactic techniques and hardware may soon change the horizon for treatment of complex tremors. Areas covered: In this article, we conducted a PubMed search using different combinations between the terms ‘Uncommon tremors’, ‘Dystonic tremor’, ‘Holmes tremor’ ‘Midbrain tremor’, ‘Rubral tremor’, ‘Cerebellar tremor’, ‘outflow tremor’, ‘Multiple Sclerosis tremor’, ‘Post-traumatic tremor’, ‘Neuropathic tremor’, and ‘Deep Brain Stimulation/DBS’. Additionally, we examined and summarized the current state of evolving interventions for treatment of complex tremor syndromes. Expert c ommentary: Recently reported interventions for rare tremors include stimulation of the posterior subthalamic area, globus pallidus internus, ventralis oralis anterior/posterior thalamic subnuclei, and the use of dual lead stimulation in one or more of these targets. Treatment should be individualized and dictated by tremor phenomenology and associated clinical features. PMID:27228280

Lennox-Gastaut syndrome (LGS) is a rare, age-related syndrome, characterized by multiple seizure types, a specific electro-encephalographic pattern, and mental regression. However, published data on the etiology, evolution, and therapeutic approach of LGS are contradictory, partly because the precise definition of LGS used in the literature varies. In the most recent classification, LGS belongs to the epileptic encephalopathies and is highly refractory to all antiepileptic drugs. Numerous treatments, medical and non-medical, have been proposed and results mostly from open studies or case series have been published. Sometimes, patients with LGS are included in a more global group of patients with refractory epilepsy. Only 6 randomized double-blind controlled trials of medical treatments, which included patients with LGS, have been published. Overall, treatment is rarely effective and the final prognosis remains poor in spite of new therapeutic strategies. Co-morbidities need specific treatment. This paper summarizes the definition, diagnosis and therapeutic approach to LGS, including not only recognized antiepileptic drugs, but also “off label” medications, immune therapy, diet, surgery and some perspectives for the future. PMID:19337447

Neurasthenia remains an important health problem in certain Asian populations, both in Asia as well as in a diasporic context. An anachronistic disease for Western observers, it has become an exotic culture-bound syndrome as well as a somatoform disorder too often hiding much more serious issues of depression. This article approaches this 'problematic' health issue from a historian's point of view and offers a colonial genealogy that will discuss neurasthenia's outline in French Vietnam. By retracing and analysing the different mentions, definitions, and uses of the term neurasthenia in the interwar period, it aims to better understand certain historical realities that might have shaped the local identity and spatiality of this problem (concentrated in colonial cities in which social change and modernity were expressed in their most salient forms), and perhaps even identify reasons that facilitated its post-colonial survival.

Postural orthostatic tachycardia syndrome (POTS) is associated with many symptoms including orthostatic intolerance, fatigue, palpitations, and cognitive dysfunction. Treatment, which typically consists of exercise, increased dietary sodium and fluids, compression garments, and medications for orthostatic intolerance, frequently produces unsatisfactory results. The authors report the case of a 26-year-old woman who presented with a 6-year history of severe fatigue, orthostatic intolerance, heat intolerance, cognitive dysfunction, and diffuse pain. She had previously injured her jaw on an obstacle course. Results of a standing test were consistent with POTS. After standard medical therapy was unsuccessful, the patient was referred for osteopathic manipulative treatment. At her 18-month follow-up, the patient's symptoms had improved dramatically. Physicians should consider osteopathic evaluation and manipulative treatment when caring for patients with POTS.

We describe a comprehensive approach to the endoscopic treatment of calcaneal spur syndrome developed by the Arthroscopic Group of the Orthopedic Service of Hospital Hermanos Ameijeiras in Havana, Cuba. The surgical technique involves treatment of the heel spur and plantar fasciitis commonly found in calcaneal spur syndrome, but it also addresses adjacent calcaneal periostitis and allows decompression of the nerve to the abductor digiti quinti. Medial endoscopy and lateral instrumentation are used in a sequential approach with exposure and debridement of the posterior roof of the calcaneal arch, followed by removal of the calcaneal spur, lateral to medial release of the medial 75% of the plantar fascia, and if necessary, debridement of the calcaneal tuberosity periosteum. This technique was used in a prospective case series from June 1997 to May 1998 to treat a select group of 38 feet in 30 patients who reported unacceptable levels of pain despite 5 months of conservative treatment, which included an aggressive 8-week physical therapy program prescribed by the treating physician. Good to excellent results were obtained at 3 months postoperatively in all patients with regard to pain relief and return to normal activity, although 5 patients required a short course of physical therapy to resolve symptoms brought on by sports, trauma, or impact loading before 1-year follow-up, at which time all patients reported good to excellent results. Complications included 3 superficial wound infections cured by oral antibiotics and 2 transient lateral paresthesias that resolved with rest and nonsteroidal inflammatory medications. The described technique may provide a useful method for treating refractory heel spur syndrome and warrants further study.

Background Fragile X syndrome (FXS) is considered the most common cause of inherited mental retardation. Affected people have mental impairment that can include Attention Deficit and/or Hyperactivity Disorder (ADHD), autism disorder, and speech and behavioural disorders. Several pharmacological interventions have been proposed to treat those impairments. Methods Systematic review of the literature and summary of the evidence from clinical controlled trials that compared at least one pharmacological treatment with placebo or other treatment in individuals with diagnosis of FXS syndrome and assessed the efficacy and/or safety of the treatments. Studies were identified by a search of PubMed, EMBASE and the Cochrane Databases using the terms fragile X and treatment. Risk of bias of the studies was assessed by using the Cochrane Collaboration criteria. Results The search identified 276 potential articles and 14 studies satisfied inclusion criteria. Of these, 10 studies on folic acid (9 with crossover design, only 1 of them with good methodological quality and low risk of bias) did not find in general significant improvements. A small sample size trial assessed dextroamphetamine and methylphenidate in patients with an additional diagnosis of ADHD and found some improvements in those taking methylphenidate, but the length of follow-up was too short. Two studies on L-acetylcarnitine, showed positive effects and no side effects in patients with an additional diagnosis of ADHD. Finally, one study on patients with an additional diagnosis of autism assessed ampakine compound CX516 and found no significant differences between treatment and placebo. Regarding safety, none of the studies that assessed that area found relevant side effects, but the number of patients included was too small to detect side effects with low incidence. Conclusion Currently there is no robust evidence to support recommendations on pharmacological treatments in patients with FXS in general or in those

SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare autoimmune disease which, due to its clinical presentation and symptoms, is often misdiagnosed and unrecognized. Its main features are prominent inflammatory cutaneous and articular manifestations. Treatments with immunosuppressive drugs have been used for the management of SAPHO with variable results. To date, the use of anti-TNF-α agents has proved to be an effective alternative to conventional treatment for unresponsive or refractory SAPHO cases. TNF-α is a pro-inflammatory cytokine and pivotal regulator of other cytokines, including IL-1 β, IL-6, and IL-8, involved in inflammation, acute-phase response induction, and chemotaxis. IL-1 inhibition strategies with anakinra have shown efficacy as first and second lines of treatment. In this review, we will describe the main characteristics of biological drugs currently used for SAPHO syndrome. We also describe some of the promising therapeutic effects of ustekinumab, an antibody against the p40 subunit of IL-12 and IL-23, after failure of multiple drugs including anti-TNF-α and anakinra. We discuss the use and impact of the new anti-IL-1 antagonists involved in the IL-17 blockade, in particular for the most difficult-to-treat SAPHO cases.

Burning mouth syndrome (BMS) is a chronic oral pain syndrome that primarily affects peri- and postmenopausal women. It is characterized by oral mucosal burning and may be associated with dysgeusia, paresthesia, dysesthesia, and xerostomia. The etiology of the disease process is unknown, but is thought to be neuropathic in origin. The goal of this systematic review was to assess the efficacy of the various treatments for BMS. Literature searches were conducted through PubMed, Web of Science, and Cochrane Library databases, which identified 22 randomized controlled trials. Eight studies examined alpha-lipoic acid (ALA), three clonazepam, three psychotherapy, and two capsaicin, which all showed modest evidence of potentially decreasing pain/burning. Gabapentin was seen in one study to work alone and synergistically with ALA. Other treatments included vitamins, benzydamine hydrochloride, bupivacaine, Catuama, olive oil, trazodone, urea, and Hypericum perforatum. Of these other treatments, Catuama and bupivacaine were the only ones with significant positive results in symptom improvement. ALA, topical clonazepam, gabapentin, and psychotherapy may provide modest relief of pain in BMS. Gabapentin may also boost the effect of ALA. Capsaicin is limited by its side effects. Catuama showed potential for benefit. Future studies with standardized methodology and outcomes containing more patients are needed.

Irritable bowel syndrome (IBS) is a complex functional bowel disorder. It can be difficult to treat because of its presentation with multiple symptoms and aggravating factors. GPs and gastroenterologists regularly see patients return for advice on symptom management. IBS is often misdiagnosed, and is not always managed effectively, despite the guidance available to clinicians. This article aims to inform readers about the symptoms and sub-classifications of IBS and the range of pharmacological and non-pharmacological treatments available, to enable nurses to understand and manage symptoms of the condition in this group of patients.

Thermal therapy using far-infrared ray dry sauna was performed for patients with chronic fatigue syndrome (CFS). Symptoms such as fatigue, pain, and low-grade fever were dramatically improved on two patients. And prednisolone administration was discontinued and became socially rehabilitated 6 months after discharge. On other 11 patients with CFS, physical symptoms such as fatigue and pain improved, too. Furthermore, we reported that repeated thermal therapy had relaxation effect and diminishes appetite loss and subjective complaints in mildly depressed patients. These results suggest that repeated thermal therapy may be a promising method for the treatment of CFS.

This paper summarizes experience gained in the Central Military Sanatorium, Sochi, in the field of diagnosis, treatment, and rehabilitation of patients with myofascial pain syndrome affecting the quadratum lumborum muscle. Conditions facilitating development of triggering myofascial structures in these muscles are analysed and methods of their diagnosis are discussed. The proposed compression test allows active trigger structures to be identified in the quadratum lumborum muscle. Detailed description of the method of myofascial meridional reflexotherapy is presented (ischemic compression of condensed trigger structures or points with dry needling, taking account of the breathing act). The authors emphasize the importance of correction of structural disproportions responsible for the formation of myofascial trigger structures.

A role for lipopolysaccharides (endotoxins, LPS) in 7 the pathogenesis of Reye's syndrome (RS) has previously been suggested. Impairment of hepatic LPS clearance can lead to systemic endotoxemia as previous studies by this and other laboratories have suggested for several hepatic disorders including RS. Systemic LPS may mediate many of the clinical findings associated with RS by eliciting monokines such as tumor necrosis factor-alpha, interleukin-1, interleukin-6, and interleukin-8. Monoclonal antibody therapy directed at LPS, and monokines may represent a novel approach to the treatment of RS.

Antiphospholipid syndrome (APS) is a clinical condition characterized by recurrent thrombotic events and/or pregnancy morbidity associated with the persistence of antiphospholipid antibodies (aPLs). It is the one of the most common diseases in acquired thrombophilia. In approximately 50 % of APS patients, systemic lupus erythematosus coexist. APS is diagnosed by the 2006 Sydney revised Sapporo criteria. The pathogenic processes of APS have not been fully elucidated. Multiple mechanisms have been proposed, including interference with hemostatic reactions, activation of endothelial cells and complement activation. The treatment of APS is virtually the preventive therapy such as long-term anticoagulation and the role of corticosteroid or immunosuppressive agents is limited.

Seventy-six patients treated at York Pain Relief Clinic for Abdominal Nerve Entrapment Syndrome (ANES) between 1982 and 1986, using aqueous phenol and nerve stimulator control are reviewed. A questionnaire was sent to all the patients who had been discharged from the clinic to try to confirm that the initial improvements had been maintained and 60 patients replied. Group A (n = 44) had been diagnosed with confidence; 95% had gained complete or partial relief of symptoms. Group B (n = 32) had other symptoms making the diagnosis less certain; 50% gained some relief. Clinical presentation of ANES and the method of treatment are described. Images Fig. 1 PMID:2970241

Short bowel syndrome necessitates long-term parenteral nutrition, which exposes to decreased quality of life and increased morbidity. In recent years the understanding of short bowel pathophysiology and related complications has expanded, forming the basis for improved treatment options. In addition to evolving nutritional therapy, new pharmacological and surgical therapies have emerged, enhancing the patients' possibilities to achieve intestinal autonomy. Increasingly efficient prevention of intestinal failure-associated liver disease and central line-associated septic episodes improves patient survival. Bowel function can be restored by intestinal transplantation in those developing life-threatening complications.

Klinefelter syndrome (KS), though described more than 70 years ago, still imposes significant diagnostic challenges. Based on data from epidemiological studies, KS is associated with increased morbidity and mortality. Although the pathophysiology and etiology behind these observations are as yet not well understood, a significant contribution of hypogonadism, central to the syndrome, is traditionally suspected. However, other unknown effects inherent to the syndrome also seem to modify the disease pattern. Herein we show that KS is under-diagnosed since only roughly 25% of patients are diagnosed and the mean age of diagnosis is during adult life. KS is associated with increased morbidity resulting in loss of 2-5 years in lifespan with increased mortality from different diseases and a poor socioeconomic profile. Small testes, hypergonadothrophic hypogonadism and cognitive impairment are usually found. The accompanying hypogonadism can lead to altered body composition and a risk of developing metabolic syndrome, type 2 diabetes and cardiovascular disease. Cancer risk is generally not different from that observed in the background population, although specific cancers like breast cancer and extragonadal germ cell tumors are seen more frequently in KS. The mainstay of medical treatment is testosterone replacement therapy to both attenuate acute and long-term consequences of hypogonadism and possibly prevent the frequent comorbidity. We believe that the diagnostic challenges should be tackled more efficiently, while there is also a pressing need to generate better evidence for timing and the proper dose of testosterone replacement. We advocate for a multidisciplinary setup with the inclusion of pediatricians, speech therapists, general practitioners, psychologists, infertility specialists, urologists and endocrinologists.

A case of an institutionalized adult male with Down syndrome and hyperthyroidism is reported. After treatment with radioactive iodine, he was found to be markedly hypothyroid when he was reviewed 11 weeks later. Three treatment options for hyperthyroidism in Down syndrome are reviewed: surgery, medical treatments, and radiotherapy. (Author/CR)

The aim of this study was to evaluate the curative effects of eliminating sedimentation inside the prostate via manipulation for the treatment of chronic pelvic pain syndrome (CPPS) using the National Institutes of Health (NIH)-chronic prostatitis symptom index (CPSI) scores. According to the prostatitis classification standard of the NIH, 721 patients with CPPS were divided into groups IIIA and IIIB by prostatic fluid routine examination (EPSRt) and treated using manipulation. The treatment was performed once per 3 days for 3–5 min and 10 treatments were considered to be a period. The EPSRt and NIH-CPSI scores were tested before and at the end of each period following treatment. After 3 treatment periods, the effectiveness and total effectiveness rates of the IIIA group were 72.3 and 15.9%, respectively and those of the IIIB group were 71.8 and 16.3%, respectively. Statistical analysis showed no significant differences between the curative effects in the two groups (P>0.05). The NIH-CPSI scores of the two groups were significantly improved following each treatment period (P<0.01). Eliminating sedimentation using manipulation dispersed the blockage, discharged the turbidity and cleared the gland, leading to the elimination of sedimentation and the relief of sinus hyperemia around the prostate, which significantly improved the clinical symptoms of CPPS and the quality of life of the patients. PMID:23737875

Controversy has developed about the existence of a relatively discrete condition of severe premenstrual dysphoric changes in the absence of underlying mental disorder (late luteal phase dysphoric disorder). With careful screening and evaluation, women with this disorder can be identified. In this study, women who sought treatment for premenstrual syndrome were divided into two groups: individuals who experienced mood and behavior changes and impaired social functioning that were limited to the premenstrual period (n = 86), and women with persistent mental disorders who experienced exacerbation or complication of symptoms during the premenstrual period (n = 54). These groups were compared with a control group of women who had no significant premenstrual changes and no current mental disorder (n = 61). Most of the differences between subjects seeking treatment and controls that were not attributable to premenstrual changes were accounted for by the women with persistent mental disorders.

The diagnosis of irritable bowel syndrome (IBS) remains a diagnosis of exclusion, whereby an extensive investigation is performed to exclude other organic diseases that may explain the symptoms of patients. Attempts to have a positive diagnosis based on symptom assessments failed to achieve widely use in clinical practice. Abnormalities in the gastrointestinal endocrine cells in IBS patients have been reported recently, providing evidence that IBS is an organic disorder, and opening the door to the use of these abnormalities as markers for a positive diagnosis of IBS. New and promising drugs for the treatment of IBS with constipation as the predominant symptom are currently on the market, and the treatment results have been satisfactory thus far.

Typical absences are brief (seconds) generalised seizures of sudden onset and termination. They have 2 essential components: clinically, the impairment of consciousness (absence) and, generalised 3 to 4Hz spike/polyspike and slow wave discharges on electroencephalogram (EEG). They differ fundamentally from other seizures and are pharmacologically unique. Their clinical and EEG manifestations are syndrome-related. Impairment of consciousness may be severe, moderate, mild or inconspicuous. This is often associated with motor manifestations, automatisms and autonomic disturbances. Clonic, tonic and atonic components alone or in combination are motor symptoms; myoclonia, mainly of facial muscles, is the most common. The ictal EEG discharge may be consistently brief (2 to 5 seconds) or long (15 to 30 seconds), continuous or fragmented, with single or multiple spikes associated with the slow wave. The intradischarge frequency may be constant or may vary (2.5 to 5Hz). Typical absences are easily precipitated by hyperventilation in about 90% of untreated patients. They are usually spontaneous, but can be triggered by photic, pattern, video games stimuli, and mental or emotional factors. Typical absences usually start in childhood or adolescence. They occur in around 10 to 15% of adults with epilepsies, often combined with other generalised seizures. They may remit with age or be lifelong. Syndromic diagnosis is important for treatment strategies and prognosis. Absences may be severe and the only seizure type, as in childhood absence epilepsy. They may predominate in other syndromes or be mild and nonpredominant in syndromes such as juvenile myoclonic epilepsy where myoclonic jerks and generalised tonic clonic seizures are the main concern. Typical absence status epilepticus occurs in about 30% of patients and is more common in certain syndromes, e.g. idiopathic generalised epilepsy with perioral myoclonia or phantom absences. Typical absence seizures are often easy to

Neuroleptic malignant syndrome (NMS) is one of the most severe iatrogenic emergencies in clinical service. The symptoms including sudden consciousness change, critical temperature elevation and electrolytes imbalance followed by mutli-organ system failure were common in NMS. In addition to aggressive interventions with intravenous fluid resuscitation and antipyretics, several antidotes have been suggested to prevent further progression of the muscle damage. Dantrolene has been reported to be one of the most effective treatments for NMS. However, the adverse effects of dantrolene treatment for NMS have not yet been evaluated thoroughly. Here we report a young male patient with bipolar I disorder who developed NMS after rapid tranquilization with haloperidol. Dantrolene was given intravenously for the treatment of NMS. However, fever accompanied with local tenderness, hardness with clear border and swelling with heat over the patient’s left forearm occurred on the sixth day of dantrolene treatment. Venous thromboembolism (VTE) over intravenous indwelling site at the patient’s forearm was noted and confirmed by Doppler ultrasound. The patient’s VTE recovered after heparin and warfarin thrombolytic therapy. To our knowledge, this is the first case report demonstrating the possible relationship between dantrolene use and VTE in a patient with antipsychotic treatment. Although the causal relationship and the underlying pathogenesis require further studies, dantrolene should be used with caution for patients with NMS. PMID:27776396

Tourette syndrome (TS) is a disorder characterised by multiple motor and vocal tics and is frequently associated with behavioural problems. Tics are known to be affected by internal factors such as inner tension and external factors such as the surrounding environment. A number of behavioural treatments have been suggested to treat the symptoms of TS, in addition to pharmacotherapy and surgery for the most severe cases. This review compiled all the studies investigating behavioural therapies for TS, briefly describing each technique and assessing the evidence in order to determine which of these appear to be effective. Different behavioural therapies that were used included habit reversal training (HRT), massed negative practice, supportive psychotherapy, exposure with response prevention, self-monitoring, cognitive-behavioural therapy, relaxation therapy, assertiveness training, contingency management, a tension-reduction technique and biofeedback training. Overall, HRT is the best-studied and most widely-used technique and there is sufficient experimental evidence to suggest that it is an effective treatment. Most of the other treatments, however, require further investigation to evaluate their efficacy. Specifically, evidence suggests that exposure with response prevention and self-monitoring are effective, and more research is needed to determine the therapeutic value of the other treatments. As most of the studies investigating behavioural treatments for TS are small-sample or single-case studies, larger randomised controlled trials are advocated.

For patients with antiphospholipid syndrome (APS), the consensus is to treat those who develop thrombosis with long-term oral anticoagulation therapy and to prevent obstetric manifestations by use of aspirin and heparin. These recommendations are based on data from randomized controlled trials and observational studies. Despite this body of knowledge, areas of uncertainty regarding the management of APS exist where evidence is scarce or nonexistent. In other words, for a subset of patients the course of management is unclear. Some examples are patients with 'seronegative' APS, those who do not fulfil the formal (clinical or serological) classification criteria for definite APS, and those with recurrent thrombotic events despite optimal anticoagulation. Other challenges include the treatment of clinical manifestations not included in the classification criteria, such as haematologic manifestations (thrombocytopenia and haemolytic anaemia), neurologic manifestations (chorea, myelitis and multiple sclerosis-like lesions), and nephropathy and heart valve disease associated with antiphospholipid antibodies (aPL), as well as the possible withdrawal of anticoagulation treatment in selected cases of thrombotic APS in which assays for aPL become persistently negative. This Review focuses on the current recommendations for thrombotic and obstetric manifestations of APS, as well as the management of difficult cases. Some aspects of treatment, such as secondary prophylaxis of venous thrombosis, are based on strong evidence--the 'lights' of APS treatment. Conversely, other areas, such as the treatment of non-criteria manifestations of APS, are based only on expert consensus or common sense and remain the 'shadows' of APS therapy.

Tourette syndrome (TS) is a disorder characterised by multiple motor and vocal tics and is frequently associated with behavioural problems. Tics are known to be affected by internal factors such as inner tension and external factors such as the surrounding environment. A number of behavioural treatments have been suggested to treat the symptoms of TS, in addition to pharmacotherapy and surgery for the most severe cases. This review compiled all the studies investigating behavioural therapies for TS, briefly describing each technique and assessing the evidence in order to determine which of these appear to be effective. Different behavioural therapies that were used included habit reversal training (HRT), massed negative practice, supportive psychotherapy, exposure with response prevention, self-monitoring, cognitive-behavioural therapy, relaxation therapy, assertiveness training, contingency management, a tension-reduction technique and biofeedback training. Overall, HRT is the best-studied and most widely-used technique and there is sufficient experimental evidence to suggest that it is an effective treatment. Most of the other treatments, however, require further investigation to evaluate their efficacy. Specifically, evidence suggests that exposure with response prevention and self-monitoring are effective, and more research is needed to determine the therapeutic value of the other treatments. As most of the studies investigating behavioural treatments for TS are small-sample or single-case studies, larger randomised controlled trials are advocated. PMID:23187152

Objective: Postural tachycardia syndrome (POTS) is one of the major causes of orthostatic intolerance in children. We systematically reviewed the pathogenesis and the progress of individualized treatment for POTS in children. Data Sources: The data analyzed in this review are mainly from articles included in PubMed and EMBASE. Study Selection: The original articles and critical reviews about POTS were selected for this review. Results: Studies have shown that POTS might be related to several factors including hypovolemia, high catecholamine status, abnormal local vascular tension, and decreased skeletal muscle pump activity. In addition to exercise training, the first-line treatments mainly include oral rehydration salts, beta-adrenoreceptor blockers, and alpha-adrenoreceptor agonists. However, reports about the effectiveness of various treatments are diverse. By analyzing the patient's physiological indexes and biomarkers before the treatment, the efficacy of medication could be well predicted. Conclusions: The pathogenesis of POTS is multifactorial, including hypovolemia, abnormal catecholamine state, and vascular dysfunction. Biomarker-directed individualized treatment is an important strategy for the management of POTS children. PMID:27625098

Irritable bowel syndrome (IBS) is one of the most common gastrointestinal disorders worldwide. The economic impact of IBS on the health care system is substantial, as is the personal impact on patients. Patients with diarrhea-predominant IBS (IBS-D) comprise a substantial proportion of the overall IBS population. Primary care providers are often the first point of contact for patients with IBS-D and can accurately diagnose IBS after a careful history and examination without extensive diagnostic tests. Several pharmacologic treatments (eg, loperamide, alosetron, and antidepressants) and non-pharmacologic treatments (eg, dietary modification and probiotics) are available for IBS-D, but restrictions on use (eg, alosetron) or the lack of controlled trial data showing reductions in both global and individual IBS-D symptoms (eg, bloating, pain and stool frequency) emphasize the need for alternative treatment options. Two newer medications (eluxadoline and rifaximin) were approved in May 2015 for the treatment of IBS-D, and represent new treatment options for this common gastrointestinal condition. PMID:26929659

Testosterone deficiency syndrome (TDS) is defined as a clinical and biochemical syndrome associated with advancing age and is characterized by typical symptoms and deficiency in serum testosterone levels. TDS is a result of the interaction of hypothalamo-pituitary and testicular factors. Now, treatment of TDS with testosterone is still controversial due to a lack of large, controlled clinical trials on efficacy. The risks of treatment with testosterone appear to be minimal, although long-term studies on the safety of testosterone therapy are lacking. The aim of the therapy is to establish a physiological concentration of serum testosterone in order to correct the androgen deficiency, relieve its symptoms and prevent long-term sequelae. All of the available products, despite their varying pharmacodynamic and pharmacokinetic profiles, are able to reach this goal. Newer testosterone patches seem not to cause severe skin irritation. Testosterone gels minimize the skin irritation while providing flexibility in dosing and a low discontinuation rate. Oral testosterone undecanoate (TU) is free of liver toxicity. Recent formulation of oral TU markedly increased shelf-live, a major drawback in the older preparation. Producing swings in testosterone levels rising rapidly to the supraphysiological range is not the case with the new injectable long-acting preparation of TU. To be able to rapidly react and stop treatment in cases where side-effects and contraindications are detected, the short-acting transdermal and oral delivery modes have certain advantages. However, there is no evidence that the use of an injectable long-acting TU in men with TDS has limitations in clinical application for this reason. The use of dehydroepiandrosterone is still controversial because of a lack of well designed long-term trials, although some recent studies suggest positive effects on various body systems. Only a few studies have been carried out to investigate the effect of hCG (human

SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare disease. Presently, there is no treatment guideline for this illness. Several studies suggested entercept, a novel biological agent against tumor necrosis factor-alpha, is effective in treating SAPHO syndrome. We report a case in which the clinical conditions of a middle-aged female patient diagnosed with SAPHO syndrome, with noted spinal disorder, improved significantly after receiving entercept treatment. The patient remained stable after 3-month follow-up.

Based on favorable experiences with acupuncture for the treatment of hind limbs paralysis, lumbo-sacral alterations, and other spinal cord problems; a clinical trial, involving 40 dogs affected with wobbler syndrome was carried out. Patients were graded in three categories according to the severity of each case and then randomly divided in two groups. Both groups contained all three grades. Group 1 (20 dogs) was treated using orthodox medical and surgical interventions, while Group 2 (20 dogs) were treated mainly with electroacupuncture, and in few cases with surgical intervention as well. The study was carried out in a three-year period. Acupuncture treatments were given every other day delivering 150 to 300 mVolts at 125 Hz, equivalents to approximately 20 microAmps, in ten acupuncture points per treatment. Deep needle insertion was used. Overall per cent success in Group I was only 20%, while in group II the corresponding value was 85%. The number of acupuncture treatments required to achieve full recovery in Group II was dependent upon the severity of the case, as follows: Grade I: 18.5 +/- 2.5; Grade II: 25 +/- 5.4; and Grade III: 34 +/- 6.7 (r = 0.962). No adverse effects were observed with acupuncture. The use of this technique is proposed for large-scale clinical trials.

The class of DNA methyltransferase inhibitors is represented by azacitidine and decitabine. Azacitidine is approved for the treatment of patients in both low- and high-risk subtypes of myelodysplastic syndrome (MDS), and decitabine is currently under review by the FDA. Azacitidine phase III trial data, based upon the Cancer and Leukemia Group B (CALGB) study 9221, showed durable clinical and symptomatic improvement in bone marrow function, a reduction in the risk of leukemic transformation, and significant improvements in the quality of life of patients treated with azacitidine compared with supportive care alone. This study also provided data suggestive of improvement in survival in MDS patients. The experience with decitabine comprises a number of phase I/II studies and a phase III trial yet to be published. While there is a strong base of experience supporting the efficacy of DNA methyltransferase inhibitors in the treatment of MDS, a number of practical issues need to be explored further. These include the optimization of the timing and duration of treatment, and the prediction of response to therapy. Along with current experience, future studies will lead to the development of treatment algorithms, strategies for selecting patients (e.g. according to age, risk, classification, and cytogenetic profile), and the combination strategies, particularly with histone deacetylase inhibitors, in the management of MDS.

Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a common condition among men of a wide age range, with detrimental effects on quality of life. The etiology, pathogenesis, and optimal treatment of CP/CPPS remain unknown, although progress has been made in these domains in recent years. A wide variety of pharmacologic and nonpharmacologic therapies have been studied in clinical trials, but most have shown limited efficacy in symptom alleviation. CP/CPPS is increasingly viewed as a condition that involves variable degrees of neuropathic pain. Medications such as gabapentin, pregabalin, memantine, and tricyclic antidepressants are often used in other neuropathic pain conditions and, therefore, are considered potential treatments for CP/CPPS. Few studies of these agents in patients with CP/CPPS have been reported, but future clinical trials should help to determine their utility and to characterize the pathogenetic mechanisms of pain in CP/CPPS. Combining treatment trials with biomarker, genomic, and imaging studies, in addition to epidemiologic and symptom-based assessments, will maximize the ability to probe disease etiology and pathogenesis, as well as identify effective treatment. PMID:20142810

The aim of this article is to review the pathophysiology and clinical role of serotonin receptor modulators used in the treatment of irritable bowel syndrome. Serotonin is an important monoamine neurotransmitter that plays a key role in the initiation of peristaltic and secretory refl exes, and in modulation of visceral sensations. Several serotonin receptor subtypes have been characterized, of which 5HT3, 5HT4, and 5HT1b are the most important for GI function. 5HT4 agonists (eg, tegaserod) potentiate peristalsis initiated by 5HT1 receptor stimulation. 5HT4 agonists are therefore useful in constipation predominant form of IBS and in chronic constipation. 5HT3 antagonists (Alosetron and Cilansetron) prevent the activation of 5HT3 receptors on extrinsic afferent neurons and can decrease the visceral pain associated with IBS. These agents also retard small intestinal and colonic transit, and are therefore useful in diarrhea-predominant IBS. Tegaserod has been demonstrated in several randomized, placebo controlled trials to relieve global IBS symptoms as well as individual symptoms of abdominal discomfort, number of bowel movements and stool consistency. Several randomized, controlled trials have shown that alosetron relieves pain, improves bowel function, and provides global symptom improvement in women with diarrhea-predominant irritable bowel syndrome. However, ischemic colitis and severe complications of constipation have been major concerns leading to voluntary withdrawal of Alosetron from the market followed by remarketing with a comprehensive risk management program. PMID:18728719

Pyoderma gangrenosum (PG) is a neutrophilic dermatosis usually manifesting as skin ulcers with undermined erythematous-violaceous borders. It may be isolated, associated with systemic conditions or occurring in the context of autoinflammatory syndromes such as PAPA (pyogenic arthritis, PG and acne), PASH (PG, acne and suppurative hidradenitis) or PAPASH (pyogenic arthritis, acne, PG and suppurative hidradenitis). From a physiopathological point of view, all these conditions share common mechanisms consisting of over-activation of the innate immune system leading to increased production of the interleukin (IL)-1 family and 'sterile' neutrophil-rich cutaneous inflammation. From a genetic point of view, a number of mutations affecting the proteins of the inflammasome complex (the molecular platform responsible for triggering autoinflammation) or the proteins that regulate inflammasome function have been described in these disorders. As these debilitating entities are all associated with the over-expression of IL-1 and tumour necrosis factor (TNF)-α, biological drugs specifically targeting these cytokines are currently the most effective treatments but, given the emerging role of IL-17 in the pathogenesis of these syndromes, IL-17 antagonists may represent the future management of these conditions.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Recurrent KCOT is the main symptom of NBCCS and is present in approximately 90% of patients. In NBCCS, KCOTs typically occur in multiples. KCOTs can be detected in patients under the age of 10, and new and recurring cysts develop until approximately the age of 30. The postoperation recurrence rate is approximately 60%. This case report presents a 14-year-old female patient with a chief complaint of a cyst found in the maxilla and mandible. The patient was diagnosed with NBCCS, and following treatment of marsupialization and enucleation, the clinical results were satisfactory. PMID:27847737

The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000. PKS is a multiple congenital anomaly deficit syndrome caused by mosaic tissue limited tetrasomy for chromosome 12p. The presented report is the first confirmed case with PKS in Turkey. This report focuses on the orofacial clinical manifestations of an 6-year-old boy with PKS who was referred to the Department of Paediatric Dentistry clinic, Gazi University. It has been learned that the PKS was diagnosed 1 year after birth. Due to intellectual disability, it was decided to make the dental treatments under moderate sedation. Although significant tongue thrust and anterior open bite were determined, any oral appliances could not be applied because of the 2 epilepsy seizures in the last 2 years. The aim was to treat decayed teeth and set good oral hygiene in the patient's mouth. Still, there is a probability for epilepsy seizures. If epileptic seizures stop permanently, we can apply an oral appliance to block tongue thrust. The patient is now under control. In cases of systemic and oral findings such as PKS, conducting medical and dental approaches together will increase the life quality of patients.

Short-lasting unilateral neuralgiform headache attacks with conjuntival injection and tearing (SUNCT) is considered a rare trigeminal autonomic cephalgias, a group of primary headache disorders characterized by brief episodes of severe unilateral headache in the distribution territory of the trigeminal nerve, accompanied by prominent ipsilateral and cranial parasympathetic autonomic features. The present report describes a SUNCT syndrome in a 64-year-old male who had been diagnosed with trigeminal neuralgia several years ago. The patient reported stabbing pain in the orbital zone and in the left upper maxillary region, of great intensity, brief duration, and a frequency of 20-100 attacks a day. Pain episodes were accompanied by conjunctival injection and tearing. Based on the anamnesis, clinical examination and a magnetic resonance imaging scan, episodic SUNCT syndrome was diagnosed and pharmacological treatment with topiramate was started. This reduced the intensity and number of attacks to 3-6 a day. Key words:Trigeminal autonomic cephalgias, SUNCT, Cluster headache, topiramate. PMID:26155359

The Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder with an incidence estimated around 1/25000. PKS is a multiple congenital anomaly deficit syndrome caused by mosaic tissue limited tetrasomy for chromosome 12p. The presented report is the first confirmed case with PKS in Turkey. This report focuses on the orofacial clinical manifestations of an 6-year-old boy with PKS who was referred to the Department of Paediatric Dentistry clinic, Gazi University. It has been learned that the PKS was diagnosed 1 year after birth. Due to intellectual disability, it was decided to make the dental treatments under moderate sedation. Although significant tongue thrust and anterior open bite were determined, any oral appliances could not be applied because of the 2 epilepsy seizures in the last 2 years. The aim was to treat decayed teeth and set good oral hygiene in the patient's mouth. Still, there is a probability for epilepsy seizures. If epileptic seizures stop permanently, we can apply an oral appliance to block tongue thrust. The patient is now under control. In cases of systemic and oral findings such as PKS, conducting medical and dental approaches together will increase the life quality of patients. PMID:26998367

Iatrogenic Cushing's syndrome is the most common form of hypercortisolism. Glucocorticoids are widely used for the treatment of various diseases, often in high doses that may lead to the development of severe hypercortisolism. Iatrogenic hypercortisolism is unique, as the application of exogenous glucocorticoids leads to the simultaneous presence of symptoms specific for hypercortisolism and the suppression of the endogenous hypothalamic-pituitary-adrenal axis. The principal question of its therapy is related to the problem of glucocorticoid withdrawal. There is considerable interindividual variability in the suppression and recovery of the hypothalamic-pituitary-adrenal axis, therefore, glucocorticoid withdrawal and substitution can only be conducted in a stepwise manner with careful clinical follow-up and regular laboratory examinations regarding endogenous hypothalamic-pituitary-adrenal axis activity. Three major complications which can be associated with glucocorticoid withdrawal are: i. reactivation of the underlying disease, ii. secondary adrenal insufficiency, iii. steroid withdrawal syndrome. Here, the authors summarize the most important aspects of this area based on their clinical experience and the available literature data.

Several immune mechanisms are suspected in the unknown etiology of West syndrome (WS). We report a male infant who suffered from WS and X-linked T-B+NK- severe combined immunodeficiency (X-SCID) with a missense mutation of the IL2RG gene (c.202G>A, p.Glu68Lys). He promptly began vitamin B6 and valproic acid treatment, but infantile spasms (IS) and hypsarrhythmia persisted. Administration of intravenous immunoglobulin and the change to topiramate (TPM) at 7 months of age resulted in the rapid resolution of IS. The CD4/8 ratio in his peripheral blood increased from 0.04-0.09 to 0.20-1.95 following unrelated cord blood transplantation (UCBT). In vitro lymphocyte proliferation in response to phytohemagglutinin or concanavalin A and the ability of B lymphocytes to produce antibodies improved as well. Electroencephalogram findings became normal 1 month after UCBT. Thus, we consider that T-cell dysfunction and/or impairments in T-B cell interactions due to X-SCID may have played important roles in the onset of WS. Immune-modulating therapies along with the administration of TPM effectively treated this severe epileptic syndrome in our patient.

Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

Hyperglycaemic hyperosmolar non-ketotic syndrome (HHNS) is a life-threatening complication of uncontrolled diabetes mellitus. This syndrome is characterised by severe hyperglycaemia, a marked increase in serum osmolality, and clinical evidence of dehydration without significant accumulation of ketoacids. HHNS is typically observed in elderly patients with non-insulin-dependent diabetes mellitus, although it may rarely be a complication in younger patients with insulin-dependent diabetes, or those without diabetes following severe burns, parenteral hyperalimentation, peritoneal dialysis, or haemodialysis. Patients receiving certain drugs including diuretics, corticosteroids, beta-blockers, phenytoin, and diazoxide are at increased risk of developing this syndrome. Patients usually present with a prolonged phase of osmotic diuresis leading to severe depletion of both the intracellular and extracellular fluid volumes. Losses of water exceed those of sodium, resulting in hypertonic dehydration. Therefore, correction of the syndrome will ultimately require administration of hypotonic fluids. Patients presenting with HHNS also have significant depletion of potassium and other electrolytes that will need to be replaced. The principal goal at the outset of therapy must be restoration of the intravascular volume to assure adequate perfusion of vital organs. It remains controversial whether 0.9% or 0.45% NaCl should be the initial fluid infused intravenously. We prefer to administer 0.9% NaCl until the vital signs have stabilised and then substitute 0.45% NaCl. 10 to 15 units of regular human insulin should be injected as a bolus, followed by a continuous infusion of approximately 0.1 U/kg/h. Once the blood glucose approaches 13.9 to 16.7 mmol/L (250 to 300) mg/dl, 5% dextrose should be added to the intravenous fluids and the rate of insulin infusion reduced. Following recovery many patients presenting with HHNS will not require long term insulin therapy and can be managed

Tourette syndrome is often accompanied by other syndromes, like attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder, and its treatment is symptomatic. Because there are no European guidelines for pharmacological treatment in Tourette syndrome, we wanted to contribute to a better insight into the common practice in Scandinavia. Furthermore, we wanted to elaborate the influence of the presence of comorbidities and of the severity of tics on pharmacological treatment. We have examined the frequency, art, and reason for pharmacological treatment in a Danish clinical cohort of 314 children with Tourette syndrome. In total, 60.5% of the children once had received pharmacological treatment. Mostly, the treatment was started because of tics or ADHD. If ADHD or obsessive-compulsive disorder were present, more children received pharmacological treatment and more different agents were tried. The children who received pharmacological treatment had more severe tics than those without medication.

Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor/phonic tics and a wide spectrum of behavioral problems (e.g., complex tic-like symptoms, attention deficit hyperactivity disorder, and obsessive-compulsive disorder). TS can be a challenging condition even for the specialists, because of the complexity of the clinical picture and the potential adverse effects of the most commonly prescribed medications. Expert opinions and consensus guidelines on the assessment and treatment of tic disorders have recently been published in Europe and Canada. All pharmacological treatment options are mere symptomatic treatments that alleviate, but do not cure, the tics. We still lack evidence of their effects on the natural long-term course and on the prognosis of TS and how these treatments may influence the natural course of brain development. The most commonly prescribed drugs are dopamine antagonists, such as typical (e.g., haloperidol, pimozide) and atypical neuroleptics (e.g., risperidone, aripiprazole), and α-2-adrenoreceptor agonists (e.g., clonidine). However, several studies have investigated the efficacy and tolerability of alternative pharmacological agents that may be efficacious, including the newest atypical antipsychotic agents (e.g., paliperidone, sertindole), tetrabenazine, drugs that modulate acetylcholine (e.g., nicotine) and GABA (e.g., baclofen, levetiracetam), tetrahydrocannabinol, botulinum toxin injections, anticonvulsant drugs (e.g., topiramate, carbamazepine), naloxone, lithium, norepinephrine, steroid 5α reductase, and other neuroactive agents (buspirone, metoclopramide, phytostigmine, and spiradoline mesylate). As regards nonpharmacological interventions, some of the more recent treatments that have been studied include electroconvulsive therapy and repetitive transcranial magnetic stimulation. This review focuses primarily on the efficacy and safety of these emerging treatment strategies in TS.

Treatment of “subacromial impingement syndrome” of the shoulder has changed drastically in the past decade. The anatomical explanation as “impingement” of the rotator cuff is not sufficient to cover the pathology. “Subacromial pain syndrome”, SAPS, describes the condition better. A working group formed from a number of Dutch specialist societies, joined by the Dutch Orthopedic Association, has produced a guideline based on the available scientific evidence. This resulted in a new outlook for the treatment of subacromial pain syndrome. The important conclusions and advice from this work are as follows: (1) The diagnosis SAPS can only be made using a combination of clinical tests. (2) SAPS should preferably be treated non-operatively. (3) Acute pain should be treated with analgetics if necessary. (4) Subacromial injection with corticosteroids is indicated for persistent or recurrent symptoms. (5) Diagnostic imaging is useful after 6 weeks of symptoms. Ultrasound examination is the recommended imaging, to exclude a rotator cuff rupture. (6) Occupational interventions are useful when complaints persist for longer than 6 weeks. (7) Exercise therapy should be specific and should be of low intensity and high frequency, combining eccentric training, attention to relaxation and posture, and treatment of myofascial trigger points (including stretching of the muscles) may be considered. (8) Strict immobilization and mobilization techniques are not recommended. (9) Tendinosis calcarea can be treated by shockwave (ESWT) or needling under ultrasound guidance (barbotage). (10) Rehabilitation in a specialized unit can be considered in chronic, treatment resistant SAPS, with pain perpetuating behavior. (11) There is no convincing evidence that surgical treatment for SAPS is more effective than conservature management. (12) There is no indication for the surgical treatment of asymptomatic rotator cuff tears. PMID:24847788

Glucagon-like peptide 2 (GLP-2) decreases gastric and intestinal motility, reduces gastric secretions, promotes intestinal growth and improves post-resection structural and functional adaptation in short bowel syndrome (SBS). Teduglutide, an analogue of GLP-2, has a prolonged half-life and provides intestinotrophic effects with once-daily subcutaneous injection in patients with SBS. This monograph reviews the preclinical and clinical data that provide the scientific rationale for the use of teduglutide in this orphan condition. Teduglutide increases intestinal absorption and diminishes the need for parenteral support in patients with SBS. The adverse event profile is consistent with the underlying disease and the known mechanism of action of teduglutide. Following its positive regulatory review and approval by the European Medicines Agency and the U.S. Food and Drug Administration in 2012, teduglutide has moved from the research setting to clinical practice, offering a new treatment paradigm for this burdensome and potentially life-threatening condition.

Functional bowel disorders, including irritable bowel syndrome (IBS), are common disorders that have a significant impact on patients' quality of life. These disorders present major challenges to healthcare providers, as few effective medical therapies are currently available. Recently, there has been increasing interest in dietary therapies for IBS, particularly a diet low in fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs). Since ingestion of FODMAPs increases the delivery of readily fermentable substrates and water to the distal small intestine and colon-which results in luminal distention and gas-the reduction of FODMAPs in a patient's diet may improve functional gastrointestinal symptoms. This paper will review the pathophysiology of IBS and the role of FODMAPs for the treatment of this condition.

Summary Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the leading single-gene cause of autism spectrum disorders. It is due to a loss of the fragile X mental retardation protein, which leads to molecular, behavioral, and cognitive deficits in these patients. Improvements in our understanding of its pathophysiology have led to the development of numerous targeted treatments in FXS as highlighted by metabotropic glutamate receptor antagonists and gamma-Aminobutyric acid receptor modulators. This review will summarize relevant pre-clinical data and results from clinical trials in human subjects with FXS. It will also highlight upcoming studies and future directions for clinical trials as well. PMID:27672538

Functional bowel disorders, including irritable bowel syndrome (IBS), are common disorders that have a significant impact on patients’ quality of life. These disorders present major challenges to healthcare providers, as few effective medical therapies are currently available. Recently, there has been increasing interest in dietary therapies for IBS, particularly a diet low in fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs). Since ingestion of FODMAPs increases the delivery of readily fermentable substrates and water to the distal small intestine and colon—which results in luminal distention and gas—the reduction of FODMAPs in a patient’s diet may improve functional gastrointestinal symptoms. This paper will review the pathophysiology of IBS and the role of FODMAPs for the treatment of this condition. PMID:24672410

OBJECTIVE: To evaluate the strength of evidence for treatments for premenstrual syndrome (PMS) and to derive a set of practical guidelines for managing PMS in family practice. QUALITY OF EVIDENCE: An advanced MEDLINE search was conducted from January 1990 to December 2001. The Cochrane Library and personal contacts were also used. Quality of evidence in studies ranged from level I to level III, depending on the intervention. MAIN MESSAGE: Good scientific evidence shows that calcium carbonate (1200 mg/d) and selective serotonin reuptake inhibitors are effective treatments for PMS. The most commonly used therapies (including vitamin B6, evening primrose oil, and oral contraceptives) are based on inconclusive evidence. Other treatments for which there is inconclusive evidence include aerobic exercise, stress reduction, cognitive therapy, spironolactone, magnesium, nonsteroidal anti-inflammatory drugs, various hormonal regimens, and a complex carbohydrate-rich diet. Although evidence for them is inconclusive, it is reasonable to recommend healthy lifestyle changes given their overall health benefits. Progesterone and bromocriptine, which are still widely used, are ineffective. CONCLUSION: Calcium carbonate should be recommended as first-line therapy for women with mild-to-moderate PMS. Selective serotonin reuptake inhibitors can be considered as first-line therapy for women with severe affective symptoms and for women with milder symptoms who have failed to respond to other therapies. Other therapies may be tried if these measures fail to provide adequate relief. PMID:12489244

Cachexia is a constellation of symptoms that amount to body wasting in the setting of a variety of chronic illnesses, including cancer, heart failure, chronic kidney disease, and acquired immunodeficiency syndrome. Cachexia is particularly worrisome clinically because it is associated with a worsened prognosis of the underlying disease. Despite a large amount of study in this area, no single agent has been shown to have consistent efficacy in human trials. One promising class in this setting is ghrelin receptor agonists. Ghrelin binds to the growth hormone secretagogue-1a receptor in appetite-regulating centers in the brain, increasing expression of neuropeptide Y and agouti-related peptide during short-term treatment. Ghrelin has also been shown to have anti-inflammatory properties, which is significant, given that cachexia is thought to be produced at least partly by inflammation induced by the underlying disease. Animal studies have demonstrated efficacy using growth hormone secretagogue receptor agonists to treat cachexia caused by cancer, chemotherapy, and chronic kidney disease. Limited human trials using ghrelin or ghrelin receptor agonists in cancer and heart disease have shown improved appetite and body mass during treatment, although longer-term trials are needed to confirm sustained effects. Also uncertain--but an intriguing possibility--is whether the improved weight gain with ghrelin treatment might also lessen the severity of the underlying disease and improve outcomes.

Irritable bowel syndrome (IBS) is a common disorder characterized by recurrent abdominal pain or discomfort, in combination with disturbed bowel habits in the absence of identifiable organic cause. Melatonin (N-acetyl-5-methoxytryptamine) is a hormone produced by the pineal gland and also large number by enterochromaffin cells of the digestive mucosa. Melatonin plays an important part in gastrointestinal physiology which includes regulation of gastrointestinal motility, local anti-inflammatory reaction as well as moderation of visceral sensation. Melatonin is commonly given orally. It is categorized by the United States Food and Drug Administration as a dietary supplement. Melatonin treatment has an extremely wide margin of safety though it may cause minor adverse effects, such as headache, rash and nightmares. Melatonin was touted as a potential effective candidate for IBS treatment. Putative role of melatonin in IBS treatment include analgesic effects, regulator of gastrointestinal motility and sensation to sleep promoter. Placebo-controlled studies in melatonin suffered from heterogeneity in methodology. Most studies utilized 3 mg at bedtime as the standard dose of trial. However, all studies had consistently showed improvement in abdominal pain, some showed improvement in quality of life of IBS patients. Melatonin is a relatively safe drug that possesses potential in treating IBS. Future studies should focus on melatonin effect on gut mobility as well as its central nervous system effect to elucidate its role in IBS patients.

Acceptance of the National Institutes of Health definition of Category III Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) and the development and validation of the Chronic Prostatitis Symptom Index has stimulated significant research into treatment of this condition. Evidence-based suggestions for treatment include the following. (i) Antimicrobials cannot be recommended for men with longstanding, previously treated CP/CPPS. (ii) Alpha-blockers can be recommended as first-line medical therapy, particularly in alpha-blocker-naïve men with moderately severe symptoms who have relatively recent onset of symptoms. (iii) Alpha-blockers cannot be recommended in men with longstanding CP/CPPS who have tried and failed alpha-blockers in the past. And (iv) anti-inflammatory therapy, finasteride and pentosan polysulfate are not recommended as primary treatment; however, they may have a useful adjunctive role in a multimodal therapeutic regimen. Early data on herbal therapies, particularly quercetin and cernilton, are intriguing, but larger multicentre, randomised, placebo-controlled trials are required before a high level of evidence recommendation can be made on its use. At this time, surgery (including minimally invasive) is recommended only for definitive indications and not generally for CP/CPPS. PMID:17954024

Serotonin syndrome has been reported with administration of linezolid and serotonin reuptake inhibitors. Meperidine blocks the neuronal reuptake of serotonin. Serotonin syndrome after concomitant linezolid and meperidine therapy has not been described. We describe serotonin syndrome after concomitant use of linezolid and meperidine in a 27-year-old man with acute leukemia.

Details of piriformis syndrome, including the proper diagnosis and most effective form of treatment, continue to be controversial. While the cause, diagnosis, and treatment of piriformis syndrome remain elusive, many studies have been conducted to investigate newly developed diagnostic techniques as well as various treatment options for piriformis-induced sciatica. Despite the quantity of literature, few studies have demonstrated statistically significant results that support one form of treatment over another. Thus, despite the evidence supporting the newer treatment methodologies for piriformis syndrome, research should continue. It is important not only to evaluate treatment outcomes based on associated pain relief, but also to investigate the functional and anatomical return that patients experience from these studied treatments in order to fully explore the most effective form of therapy for piriformis syndrome.

Frontotemporal brain sagging syndrome is a dementia associated with hypersomnolence, personality changes, and features of intracranial hypotension on magnetic resonance imaging. The literature is sparse with respect to treatment options; many patients simply worsen. We present a case in which this syndrome responded to lumbar dural reduction surgery. Postoperative magnetic resonance imaging indicated normalization of brain sagging and lumbar intrathecal pressure. Although no evidence of cerebrospinal leak was found, extremely thin dura was noted intraoperatively, suggesting that a thin and incompetent dura could result in this low-pressure syndrome. Clinicians who encounter this syndrome should consider dural reduction surgery as a treatment strategy.

For treatment of intractable epilepsies, there are no data comparing conventional adrenocorticotropic hormone and pulsatile corticoid therapy with dexamethasone. A retrospective comparison of efficacy was therefore conducted for both forms of application. Between 1989 and 2001, a series of 11 children with West syndrome and 3 with Lennox-Gastaut syndrome were treated with adrenocorticotropic hormone (group 1); between 2003 and 2006, 7 children with West syndrome, 5 with electrical status epilepticus during slow sleep, and 2 with Lennox-Gastaut syndrome were treated with pulsatile corticoid therapy (group 2). In group 1 (n = 14), 9/11 West syndrome patients became seizure free, but none with Lennox-Gastaut syndrome (0/3). In group 2 (n = 14), 4/7 West syndrome patients became seizure-free, 1/2 with Lennox-Gastaut syndrome exhibited seizure-frequency reduction, and 2/5 patients with electrical status epilepticus during slow-wave sleep exhibited significant improvement according to electroencephalograms. In West syndrome, pulsatile corticoid therapy was an effective alternative treatment to adrenocorticotropic hormone, whereas in Lennox-Gastaut syndrome in general steroids did not lead to a significant seizure reduction. In electrical status epilepticus during slow-wave sleep, treatment with pulsatile corticoid therapy seems to be effective and should be investigated in a larger group of patients.

Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

Chronic constipation is a symptom complex caused by a wide variety of diseases. Primary causes of constipation, including enterocele, rectocele, rectum prolapse and intussusception, involve changes of the bowel which either delay or prevent the passage of bowel content. This condition has been termed "obstructed defaecation syndrome" (ODS).This article is based on clinical experience and a review of selected literature. The complexity of chronic constipation warrants interdisciplinary work-up and treatment. The diagnostic work-up includes taking a focus on the history of patient's complaints. This can be objectified using a standardized scoring system, e. g. Longo score. Gynaecological examinations must be performed on all female patients. Intraluminal abnormalities are best excluded by colonoscopy and rectoscopy. An abnormal score in combination with negative findings on endoscopy and gynaecologic examinations warrant a radiological assessment with a defaecogramm in symptomatic patients. Treatment is usually medical, involving changes in life style, bowel habits and the use of laxatives. Biofeedback has been shown to be effective in some patients. Surgery is indicated for selected patient who do not improve after medical treatment. A range of surgical procedures have been shown to be effective in the treatment of chronic constipation. The minimal invasive double stapled trans anal rectum resection (STARR procedure) has been proven effective in treating rectocele and rectum prolapse in selected patients. The advantages of the STARR procedure include: short hospital stay, reduced postoperative pain and an early return to work. We consider this procedure as safe and effective when performed by a well trained surgeon in selected patients.

The Middle East Respiratory Syndrome coronavirus (MERS-CoV) has been a focus of international attention since its identification in 2012. Epidemiologically it is characterized by sporadic community cases, which are amplified by hospital-based outbreaks. Healthcare facilities in 27 countries from most continents have experienced imported cases, with the most significant outbreak involving 186 cases in Korea. The mortality internationally is 36% and guidance for clinical management has yet to be developed. Most facilities and healthcare providers outside of the Middle East receiving patients have no or little experience in the clinical management of MERS. When a case does occur there is likely little time for a critical appraisal of the literature and putative pharmacological options. We identified published literature on the management of both MERS-CoV and the Severe Acute Respiratory Syndrome coronavirus (SARS-CoV) through searches of PubMed and WHO and the US CDC websites up to 30 April 2016. A total of 101 publications were retrieved for critical appraisal. Most published literature on therapeutics for MERS are in vitro experiments, animal studies and case reports. Current treatment options for MERS can be categorized as: immunotherapy with virus-specific antibodies in convalescent plasma; polyclonal and monoclonal antibodies produced in vitro or in genetically modified animals; and antiviral agents. The use of any therapeutics in MERS-CoV remains investigational. The therapeutic agents with potential benefits and warranting further investigation include convalescent plasma, interferon-β/ribavirin combination therapy and lopinavir. Corticosteroids, ribavirin monotherapy and mycophenolic acid likely have toxicities that exceed potential benefits.

In management of metabolic syndrome, the traditional Chinese medicine (TCM) is an excellent representative in alternative and complementary medicines with a complete theory system and substantial herb remedies. In this article, basic principle of TCM is introduced and 22 traditional Chinese herbs are reviewed for their potential activities in the treatment of metabolic syndrome. Three herbs, ginseng, rhizoma coptidis (berberine, the major active compound) and bitter melon, were discussed in detail on their therapeutic potentials. Ginseng extracts made from root, rootlet, berry and leaf of Panax quinquefolium (American ginseng) and Panax ginseng (Asian ginseng), are proved for anti-hyperglycemia, insulin sensitization, islet protection, anti-obesity and anti-oxidation in many model systems. Energy expenditure is enhanced by ginseng through thermogenesis. Ginseng-specific saponins (ginsenosides) are considered as the major bioactive compounds for the metabolic activities of ginseng. Berberine from rhizoma coptidis is an oral hypoglycemic agent. It also has anti-obesity and anti-dyslipidemia activities. The action mechanism is related to inhibition of mitochondrial function, stimulation of glycolysis, activation of AMPK pathway, suppression of adipogenesis and induction of low-density lipoprotein (LDL) receptor expression. Bitter melon or bitter gourd (Momordica charantia) is able to reduce blood glucose and lipids in both normal and diabetic animals. It may also protect β cells, enhance insulin sensitivity and reduce oxidative stress. Although evidence from animals and humans consistently supports the therapeutic activities of ginseng, berberine and bitter melon, multi-center large-scale clinical trials have not been conducted to evaluate the efficacy and safety of these herbal medicines. PMID:18537696

Irritable bowel syndrome (IBS) is a highly prevalent functional disorder that reduces patients’ quality of life. It is a chronic disorder characterized by abdominal pain or discomfort associated with disordered defecation in the absence of identifiable structural or biochemical abnormalities. IBS imposes a significant economic burden to the healthcare system. Alteration in neurohumoral mechanisms and psychological factors, bacterial overgrowth, genetic factors, gut motility, visceral hypersensitivity, and immune system factors are currently believed to influence the pathogenesis of IBS. It is possible that there is an interaction of one or more of these etiologic factors leading to heterogeneous symptoms of IBS. IBS treatment is predicated upon the patient’s most bothersome symptoms. Despite the wide range of medications and the high prevalence of the disease, to date no completely effective remedy is available. This article reviews the literature from January 2008 to July 2013 on the subject of IBS peripherally acting pharmacological treatment. Drugs are categorized according to their administration for IBS-C, IBS-D or abdominal pain predominant IBS. PMID:25083060

Mast cell (MC) activation syndrome (MCAS) is a collection of illnesses of inappropriate MC activation with little to no neoplastic MC proliferation, distinguishing it from mastocytosis. MCAS presents as chronic, generally inflammatory multisystem polymorbidity likely driven in most by heterogeneous patterns of constitutively activating mutations in MC regulatory elements, posing challenges for identifying optimal mutation-targeted treatment in individual patients. Targeting commonly affected downstream effectors may yield clinical benefit independent of upstream mutational profile. For example, both activated KIT and numerous cytokine receptors activate the Janus kinases (JAKs). Thus, JAK-inhibiting therapies may be useful against the downstream inflammatory effects of MCAS. The oral JAK1/JAK3 inhibitor, tofacitinib, is currently approved for rheumatoid arthritis and is in clinical trials for other chronic inflammatory disorders. Herein, we report two MCAS patients who rapidly gained substantial symptomatic response to tofacitinib. Their improvement suggests need for further evaluation of this class of drugs in MCAS treatment. This article is protected by copyright. All rights reserved.

The human illness designated as possible estuarine-associated syndrome (PEAS) by the Centers for Disease Control and Prevention (CDC) has been associated with exposure to estuaries inhabited by toxin-forming dinoflagellates, including members of the fish-killing toxic Pfiesteria complex (TPC), Pfiesteria piscicida and Pfiesteria shumwayae. Humans may be exposed through direct contact with estuarine water or by inhalation of aerosolized or volatilized toxin(s). The five cases reported here demonstrate the full spectrum of symptoms experienced during acute and chronic stages of this suspected neurotoxin-mediated illness. The nonspecific symptoms most commonly reported are cough, secretory diarrhea, headache, fatigue, memory impairment, rash, difficulty in concentrating, light sensitivity, burning skin upon water contact, muscle ache, and abdominal pain. Less frequently encountered symptoms are upper airway obstruction, shortness of breath, confusion, red or tearing eyes, weakness, and vertigo. Some patients experience as few as four of these symptoms. The discovery that an indicator of visual pattern-detection ability, visual contrast sensitivity (VCS), is sharply reduced in affected individuals has provided an objective indicator that is useful in diagnosing and monitoring PEAS. VCS deficits are present in both acute and chronic PEAS, and VCS recovers during cholestyramine treatment coincident with symptom abatement. Although PEAS cannot yet be definitively associated with TPC exposure, resolution with cholestyramine treatment suggests a neurotoxin-mediated illness. PMID:11401768

Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder associated with abdominal pain, diarrhea, constipation, or a mix of symptoms. The pathophysiology of IBS is not completely understood but appears to involve genetics, the gut microbiome, immune activation, altered intestinal permeability, and brain-gut interactions. There is no gold standard for diagnosis. Several sets of symptom-based guidelines exist. Treatment strategies for IBS may include both nonpharmacologic and pharmacologic approaches. Lifestyle modifications that aim to improve exercise, sleep, diet, and stress may be warranted. Recent data suggest that a gluten-free diet and a diet low in fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs) may benefit some patients. For patients with diarrhea-predominant IBS, treatment options include the synthetic peripheral μ-opioid receptor agonist loperamide, antispasmodic agents, antidepressants, serotonin 5-HT3 antagonists, and the gut-specific antibiotic rifaximin. Ongoing research is evaluating the use of probiotics. For patients with constipation-predominant IBS, therapeutic strategies may include dietary fiber, laxatives, and the prosecretory agents lubiprostone and linaclotide. Research is continuing to optimize the use of available agents and evaluating new approaches to further improve the care of patients with IBS. PMID:26491416

In the USA and internationally, women experience farranging differences with respect to acute coronary syndrome (ACS) and myocardial infarction (MI). Women suffer from more comorbidities than men, such as smoking, obesity, hypertension, diabetes, and poor mental health. They some-times exhibit atypical MI presentation symptoms and are overall less likely to present with chest pain. Women are more likely than men to encounter delays between the onset of symptoms and arrival at the hospital or to guideline treatment. The use of various surgical and pharmacological treatments, including revascularization approaches, also differs. Women, on average, have worse outcomes than men following MI, with more complications, higher mortality rates, and poorer recovery. Internationally, outcomes are similar despite various differences in health care and culture in non-US countries. In this review, we detail differences regarding ACS and MI in women, describing their complex correlations and discussing their possible causes. Educational approaches that are tailored to women might help to reduce the incidence of ACS and MI, as well as outcomes following hospitalization. Although outcomes following acute MI have been improving over the years, women may require special consideration in order to see continued improvement. PMID:26884685

Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1. The skeletal muscle and cardiac symptoms are accounted for, in most cases, by a dominant negative effect of the mutations on potassium channel current, resulting in prolonged depolarization of the action potential. Mechanisms of disruption of channel function include abnormal trafficking and assembly of second messengers such as phosphatidylinositol 4,5-bisphosphate, abnormal gating of the channel, and incorrect folding of the Kir2.1 protein. Less apparent is the mechanism by which these mutations account for the typical facial and skeletal abnormalities. The concomitant involvement of cardiac and skeletal muscle in ATS poses unique treatment and management challenges. Because of differences in cardiac and skeletal muscle physiology, drugs that may have a beneficial effect on cardiac function may have a detrimental effect on skeletal muscle and vice versa. We review the clinical, laboratory, and genetic features of this disorder with particular emphasis on treatment and management.

Irritable bowel syndrome (IBS) is a highly prevalent functional disorder that reduces patients' quality of life. It is a chronic disorder characterized by abdominal pain or discomfort associated with disordered defecation in the absence of identifiable structural or biochemical abnormalities. IBS imposes a significant economic burden to the healthcare system. Alteration in neurohumoral mechanisms and psychological factors, bacterial overgrowth, genetic factors, gut motility, visceral hypersensitivity, and immune system factors are currently believed to influence the pathogenesis of IBS. It is possible that there is an interaction of one or more of these etiologic factors leading to heterogeneous symptoms of IBS. IBS treatment is predicated upon the patient's most bothersome symptoms. Despite the wide range of medications and the high prevalence of the disease, to date no completely effective remedy is available. This article reviews the literature from January 2008 to July 2013 on the subject of IBS peripherally acting pharmacological treatment. Drugs are categorized according to their administration for IBS-C, IBS-D or abdominal pain predominant IBS.

Dumping syndrome is a serious complication that may occur after gastric surgery in approximately 10% of patients in the 1990s. With the increasing number of patients undergoing bariatric surgery, the incidence of dumping syndrome is likely to increase in recent years. It is necessary for clinicians to recognize the syndrome and master its management. We present a case of recurrent loss of consciousness, which was finally accurately diagnosed as late dumping syndrome twelve years after subtotal gastrectomy and successfully treated with acarbose. A 66-year old lean male was found unconscious repeatedly within one year, oral glucose tolerance tests performed before and after acarbose treatment verified the diagnosis of late dumping syndrome. Hypoglycaemia can damage the body in acute and chronic form. Acarbose can be used as a successful treatment modality for reactive hypoglycaemia due to late dumping syndrome by influencing the release of hormone.

Irritable bowel syndrome (IBS) is a long-lasting, relapsing disorder characterized by abdominal pain/discomfort and altered bowel habits. Intestinal motility impairment and visceral hypersensitivity are the key factors among its multifactorial pathogenesis, both of which require effective treatment. Voltage-gated calcium channels mediate smooth muscle contraction and endocrine secretion and play important roles in neuronal transmission. Antispasmodics are a group of drugs that have been used in the treatment of IBS for decades. Alverine citrate, a spasmolytic, decreases the sensitivity of smooth muscle contractile proteins to calcium, and it is a selective 5-HT1A receptor antagonist. Alverine, in combination with simethicone, has been demonstrated to effectively reduce abdominal pain and discomfort in a large placebo-controlled trial. Mebeverine is a musculotropic agent that potently blocks intestinal peristalsis. Non-placebo-controlled trials have shown positive effects of mebeverine in IBS regarding symptom control; nevertheless, in recent placebo-controlled studies, mebeverine did not exhibit superiority over placebo. Otilonium bromide is poorly absorbed from the GI tract, where it acts locally as an L-type calcium channel blocker, an antimuscarinic and a tachykinin NK2 receptor antagonist. Otilonium has effectively reduced pain and improved defecation alterations in placebo-controlled trials in IBS patients. Pinaverium bromide is also an L-type calcium channel blocker that acts locally in the GI tract. Pinaverium improves motility disorders and consequently reduces stool problems in IBS patients. Phloroglucinol and trimethylphloroglucinol are non-specific antispasmodics that reduced pain in IBS patients in a placebo-controlled trial. Antispasmodics have excellent safety profiles. T-type calcium channel blockers can abolish visceral hypersensitivity in animal models, which makes them potential candidates for the development of novel therapeutic agents in the

Dropped head syndrome (DHS) associated with parkinsonism is not frequent, but it markedly reduces the activities of daily living and is refractory. To elucidate the mechanism and treatment of DHS associated with parkinsonism, we assessed 28 parkinsonian patients with DHS (2 men and 26 women) by examining their clinical features and cervical-muscle-needle and surface electromyographic (EMG) recordings. We also evaluated the effects of lidocaine, muscle afferent block (MAB; 1% lidocaine mixed with ethanol), and botulinum toxin injected into the bilateral sternocleidomastoid muscles (SCMs), which were considered to be the affected muscles. In some patients, DHS occurred after the initiation or loading of dopamine agonists (less common after pergolide than cabergoline and pramipexole). Improvement was noted after a reduction in the dopamine agonist dose in some patients, and loading of l-dopa in others. Needle EMG revealed no evidence for weakness of the dorsal neck muscles. Surface EMG showed a gradual increase in SCMs activity upon passive head lifting. Lidocaine injection into SCMs markedly improved DHS, but the effect was temporary. The effect of botulinum toxin and MAB was not satisfactory. Whereas DHS could have a heterogeneous etiology, dopamine receptor sensitivity may play a role in its pathogenesis. For the treatment of DHS in parkinsonian patients, an increase in the dosage of l-dopa and a decrease in that of the dopamine agonist should be considered. Lidocaine injection (lidocaine test) could be useful for determining the most affected muscle before using botulinum toxin or MAB. Further studies are needed to examine the outcome of such treatments that include GPi-DBS.

The infectious complications of the acquired immunodeficiency syndrome (AIDS) are discussed, and the conventional and nonconventional therapies used for these infections are reviewed. The infections most commonly encountered in patients with AIDS are Pneumocystis carinii pneumonia (58%), Candida esophagitis (31%), toxoplasmosis (21%), cytomegalovirus infections (15%), and herpes-simplex virus infections (12%). Pneumocystis carinii pneumonia is the most common life-threatening process in these patients. Trimethoprim-sulfamethoxazole (TMP-SMZ) is considered the drug of choice for its treatment. Oral candidiasis often indicates the progression to AIDS in the high-risk populations of homosexual or bisexual men, intravenous drug abusers, and individuals with hemophilia. Nystatin suspension is commonly used to treat oral candidiasis, while Candida esophagitis demands systemic therapy with ketoconazole. Toxoplasmosis most commonly manifests itself in patients with AIDS as a cerebral mass lesion. The recommended therapy includes sulfadiazine and pyrimethamine. AIDS patients frequently experience protozoal invasion of the intestinal tract with Giardia lamblia, Isospora belli, and Cryptosporidium muris. Various drugs have been tried for these infections, including quinacrine hydrochloride, metronidazole, TMP-SMZ, and spiramycin. Cytomegalovirus (CMV) infections commonly involve the lungs, gastrointestinal tract, eyes, brain, and nervous system. Attempts to treat these disseminated CMV infections with antiviral agents, including acyclovir, have not been successful. However, acyclovir has been found beneficial in the treatment of herpes-simplex virus infections. Multiple infectious complications may occur in patients with AIDS as a result of the cellular-immune deficiency associated with this disease. Until more research is done with AIDS patients, therapy must be based on the data available from the treatment of these infections in immunosuppressed patients without AIDS.

Irritable bowel syndrome (IBS) is a long-lasting, relapsing disorder characterized by abdominal pain/discomfort and altered bowel habits. Intestinal motility impairment and visceral hypersensitivity are the key factors among its multifactorial pathogenesis, both of which require effective treatment. Voltage-gated calcium channels mediate smooth muscle contraction and endocrine secretion and play important roles in neuronal transmission. Antispasmodics are a group of drugs that have been used in the treatment of IBS for decades. Alverine citrate, a spasmolytic, decreases the sensitivity of smooth muscle contractile proteins to calcium, and it is a selective 5-HT1A receptor antagonist. Alverine, in combination with simethicone, has been demonstrated to effectively reduce abdominal pain and discomfort in a large placebo-controlled trial. Mebeverine is a musculotropic agent that potently blocks intestinal peristalsis. Non-placebo-controlled trials have shown positive effects of mebeverine in IBS regarding symptom control; nevertheless, in recent placebo-controlled studies, mebeverine did not exhibit superiority over placebo. Otilonium bromide is poorly absorbed from the GI tract, where it acts locally as an L-type calcium channel blocker, an antimuscarinic and a tachykinin NK2 receptor antagonist. Otilonium has effectively reduced pain and improved defecation alterations in placebo-controlled trials in IBS patients. Pinaverium bromide is also an L-type calcium channel blocker that acts locally in the GI tract. Pinaverium improves motility disorders and consequently reduces stool problems in IBS patients. Phloroglucinol and trimethylphloroglucinol are non-specific antispasmodics that reduced pain in IBS patients in a placebo-controlled trial. Antispasmodics have excellent safety profiles. T-type calcium channel blockers can abolish visceral hypersensitivity in animal models, which makes them potential candidates for the development of novel therapeutic agents in the

Scleromyxedema is a potentially serious disease that can have various systemic complications. One of the most frequent forms of central nervous system involvement is dermato-neuro syndrome. High-dose intravenous immunoglobulins are among the drug treatments that have been used for this syndrome. We describe 2 patients with scleromyxedema, one of whom developed dermato-neuro syndrome. Both patients responded well to treatment with high-dose intravenous immunoglobulins. We suggest this therapy as a suitable first-line treatment for scleromyxedema and for its neurological complications.

Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability and autism spectrum disorder. Caused by a silenced fragile X mental retardation 1 gene and the subsequent deficiency in fragile X mental retardation protein, patients with FXS experience a range of physical, behavioral, and intellectual debilitations. The FXS field, as a whole, has recently met with some challenges, as several targeted clinical trials with high expectations of success have failed to elucidate significant improvements in a variety of symptom domains. As new clinical trials in FXS are planned, there has been much discussion about the use of the commonly used clinical outcome measures, as well as study design considerations, patient stratification, and optimal age range for treatment. The evidence that modification of these drug targets and use of these failed compounds would prove to be efficacious in human clinical study were rooted in years of basic and translational research. There are questions arising as to the use of the mouse models for studying FXS treatment development. This issue is twofold: many of the symptom domains and molecular and biochemical changes assessed and indicative of efficacy in mouse model study are not easily amenable to clinical trials in people with FXS because of the intolerability of the testing paradigm or a lack of noninvasive techniques (prepulse inhibition, sensory hypersensitivity, startle reactivity, or electrophysiologic, biochemical, or structural changes in the brain); and capturing subtle yet meaningful changes in symptom domains such as sociability, anxiety, and hyperactivity in human FXS clinical trials is challenging with the currently used measures (typically parent/caregiver rating scales). Clinicians, researchers, and the pharmaceutical industry have all had to take a step back and critically evaluate the way we think about how to best optimize future investigations into pharmacologic FXS treatments. As new clinical

Children with Asperger Syndrome present with significant social skills deficits, which may contribute to clinical problems such as anxiety, depression, and/or other behavioral disorders. This article provides a description of the nature of Asperger Syndrome and provides possible treatment interventions, specifically focusing on the efficacy of…

Acquired long-QT syndrome is an iatrogenic disorder, usually induced by drugs, which can cause life-threatening arrhythmias. We present a case report on an acquired long-QT syndrome with an interesting confluence of circumstances, and comment on aetiology and treatment.

Minocycline can rescue the dendritic spine and synaptic structural abnormalities in the fragile X knock-out mouse. This is a review and preliminary survey to document side effects and potential outcome measures for minocycline use in the treatment of individuals with fragile X syndrome. We surveyed 50 patients with fragile X syndrome who received…

The Melkersson-Rosenthal syndrome consists of triad of symptoms: recurrent oedema of lips, recurrent facial nerve paralysis and lingua plicata. Treatment is usually symptomatic and required cooperation of different specialists as: dermatologists, neurologists, dentists, laryngologists, surgeons. A rare case of Melkersson-Rosenthal syndrome in 49-year-old man was observed in the Clinic of Dermatology Silesian Medical Academy in Katowice.

ABSTRACT Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cognitive, behavioral, and physical disability. No known treatment exists beyond symptomatic management, and while insights into the genetic cause, pathophysiology, neurobiology, and natural history of RTT have been gained, many challenges remain. Areas covered: Based on a comprehensive survey of the primary literature on RTT, this article describes and comments upon the general and unique features of the disorder, genetic and neurobiological bases of drug development, and the history of clinical trials in RTT, with an emphasis on drug trial design, outcome measures, and implementation. Expert opinion: Neurobiologically based drug trials are the ultimate goal in RTT, and due to the complexity and global nature of the disorder, drugs targeting both general mechanisms (e.g., growth factors) and specific systems (e.g., glutamate modulators) could be effective. Trial design should optimize data on safety and efficacy, but selection of outcome measures with adequate measurement properties, as well as innovative strategies, such as those enhancing synaptic plasticity and use of biomarkers, are essential for progress in RTT and other neurodevelopmental disorders. PMID:28163986

Nuts are rich in many bioactive compounds that can exert beneficial effects on cardiovascular health. We reviewed the evidence relating nut consumption and the metabolic syndrome (MetS) and its components. Nuts reduce the postprandial glycemic response; however, long-term trials of nuts on insulin resistance and glycemic control in diabetic individuals are inconsistent. Epidemiologic studies have shown that nuts may lower the risk of diabetes incidence in women. Few studies have assessed the association between nuts and abdominal obesity, although an inverse association with body mass index and general obesity has been observed. Limited evidence suggests that nuts have a protective effect on blood pressure and endothelial function. Nuts have a cholesterol-lowering effect, but the relation between nuts and hypertriglyceridemia and high-density lipoprotein cholesterol is not well established. A recent pooled analysis of clinical trials showed that nuts are inversely related to triglyceride concentrations only in subjects with hypertriglyceridemia. An inverse association was found between the frequency of nut consumption and the prevalence and the incidence of MetS. Several trials evaluated the effect of nuts on subjects with MetS and found that they may have benefits in some components. Compared with a low-fat diet, a Mediterranean diet enriched with nuts could be beneficial for MetS management. The protective effects on metabolism could be explained by the modulation of inflammation and oxidation. Further trials are needed to clarify the role of nuts in MetS prevention and treatment.

Dopaminergic agents, anticonvulsants, benzodiazepines, opiates, and iron supplementation comprise the classes of medications commonly used to treat restless legs syndrome (RLS), which is a disorder that is estimated to affect about 1 in 10 individuals worldwide and impacts an affected patient’s sleep, mood, daytime function, and quality of life. RLS is characterized by an urge to move the legs that is worse at bedtime and at rest; the symptoms are temporarily relieved by leg movement. It is frequently accompanied by periodic limb movements during sleep (PLMS), which may independently disrupt sleep and may cause daytime drowsiness. Dopaminergic agents are considered to be first-line therapy in the management of RLS as well as PLMS. Ropinirole (Requip®, GlaxoSmithKline) is a dopamine agonist that was the first medication approved by the US Food and Drug Administration (FDA) for the treatment of moderate-to-severe primary RLS. Based on several large-scale clinical trials and open-label clinical series, this medication has been demonstrated to be effective and safe in treating the motor symptoms of RLS and improving sleep quality. PMID:19412490

Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cognitive, behavioral, and physical disability. No known treatment exists beyond symptomatic management, and while insights into the genetic cause, pathophysiology, neurobiology, and natural history of RTT have been gained, many challenges remain. Areas covered: Based on a comprehensive survey of the primary literature on RTT, this article describes and comments upon the general and unique features of the disorder, genetic and neurobiological bases of drug development, and the history of clinical trials in RTT, with an emphasis on drug trial design, outcome measures, and implementation. Expert opinion: Neurobiologically based drug trials are the ultimate goal in RTT, and due to the complexity and global nature of the disorder, drugs targeting both general mechanisms (e.g., growth factors) and specific systems (e.g., glutamate modulators) could be effective. Trial design should optimize data on safety and efficacy, but selection of outcome measures with adequate measurement properties, as well as innovative strategies, such as those enhancing synaptic plasticity and use of biomarkers, are essential for progress in RTT and other neurodevelopmental disorders.

Background Surgical treatment of thoracic outlet syndrome (TOS) is necessary when non-surgical treatments fail. Complications of surgical procedures vary from short-term post-surgical pain to permanent disability. The outcome of TOS surgery is affected by the visibility during the operation. In this study, we have compared the complications arising during the supraclavicular and the transaxillary approaches to determine the appropriate approach for TOS surgery. Methods In this study, 448 patients with symptoms of TOS were assessed. The male-to-female ratio was approximately 1:4, and the mean age was 34.5 years. Overall, 102 operations were performed, including unilateral, bilateral, and reoperations, and the patients were retrospectively evaluated. Of the 102 patients, 63 underwent the supraclavicular approach, 32 underwent the transaxillary approach, and 7 underwent the transaxillary approach followed by the supraclavicular approach. Complications were evaluated over 24 months. Results The prevalence of pneumothorax, hemothorax, and vessel injuries in the transaxillary and the supraclavicular approaches was equal. We found more permanent and transient brachial plexus injuries in the case of the transaxillary approach than in the case of the supraclavicular approach, but the difference was not statistically significant. Persistent pain and symptoms were significantly more common in patients who underwent the transaxillary approach (p<0.05). Conclusion The supraclavicular approach seems to be the more effective technique of the two because it offers the surgeon better access to the brachial plexus and a direct view. This approach for a TOS operation offers a better surgical outcome and lower reoperation rates than the transaxillary method. Our results showed the supraclavicular approach to be the preferred method for TOS operations. PMID:28180101

Chronic fatigue syndrome became known nationally in l985 with a pseudoepidemic in a Nevada resort community. Initially and erroneously linked to the Epstein-Barr virus, the cause of this puzzling syndrome and the mind-body connection are areas of controversy and research. (Author/SM)

Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed.

The case of a 20 year old woman is reported with Budd-Chiari syndrome in whom lupus anticoagulant and anticardiolipin antibodies were shown; treatment with oral anticoagulants induced a considerable improvement. This treatment was interrupted after one year; interruption was followed by redevelopment of ascites. Further treatment with anticoagulants was continued for five years with noticeable improvement. When treatment with oral anticoagulants was stopped because of pregnancy, the patient redeveloped ascites and had a spontaneous miscarriage. Subsequently, treatment with oral anticoagulants was reintroduced and again resulted in noticeable improvement. In conclusion patients with Budd-Chiari syndrome should be tested for lupus anticoagulants and anticardiolipin antibodies, Budd-Chiari syndrome resulting from this cause may have a good response to treatment with oral anticoagulants; this treatment should be maintained permanently, and pregnancy in such patients may initiate serious difficulties. Images p1004-a PMID:8063206

... Bowel SyndromeTreatments Aren't One-Size-Fits-All Share Tweet Linkedin Pin it More sharing options ... the United States. No one remedy works for all patients, so there’s a great medical need to ...

West syndrome is an age-dependent epileptic encephalopathy. Despite potential side effects, hormonal therapy remains the main treatment for West syndrome. Here, we report on 10 patients receiving steroid treatment who presented with unusual, mostly hyperkinetic, movements. Facial grimacing, repetitive mouth opening, adduction and abduction of upper and lower extremities, and periodical strabismus in different combinations were observed in all patients, independent of formulation, dose, duration, and efficacy of treatment. Symptoms disappeared in sleep and reappeared immediately on arousal. Dyskinesias stopped gradually after a month of discontinuation of treatment. Repeated EEGs did not show corresponding epileptiform activity. We conclude that these abnormal movements can be attributed to side effects of hormonal treatment.

Crouzon syndrome is one of the frequent pathologies within craniosynostosis syndrome. Current progress in computers and biotechnologies allows improving surgical approach and forecasting final result of reconstruction as well. We present a case of successful surgical treatment of Crouzon syndrome, done by application of virtual planning allowing determining “monobloc” features, type of reconstruction and distraction protocol as well. A 20-year-old female had presented with craniofacial deformity. Clinical and radiological investigation revealed Crouzon syndrome. The “monobloc” creation, cranioplasty and internal distractors positioning, direction and schedule of advancement were done according to preoperative virtual planning data achieved by Materialise Mimics Research software. Nine months postoperative functional and esthetic result and radiological findings showed to be reasonable. That application of virtual simulation significantly allows to determine best direction of distraction and improves postoperative outcomes of surgical treatment of Crouzon syndrome. PMID:27563623

Several definitions and sets of diagnostic criteria of complex regional pain syndrome have been proposed, but to date none has been accepted completely. This article presents a specific subtype of the disease, called 'chronic, refractory complex regional pain syndrome' which is extremely severe, disabling and resistant to treatment. It also emphasizes difficulties with diagnosing complex regional pain syndrome because of its variable clinical presentation and diagnostic criteria being insufficiently precise. The necessity to distinguish between criteria for clinical use and for scientific purposes is suggested with a proposal of practical guideline for diagnosing acute complex regional pain syndrome. A review of treatments for complex regional pain syndrome is presented, with opinion on their effectiveness: good in an early stage, less well in chronic and generally poor in the chronic, refractory subtype.

Autism spectrum disorders (ASDs) are genetically and clinically heterogeneous and lack effective medications to treat their core symptoms. Studies of syndromic ASDs caused by single gene mutations have provided insights into the pathophysiology of autism. Fragile X and Rett syndromes belong to the syndromic ASDs in which preclinical studies have identified rational targets for drug therapies focused on correcting underlying neural dysfunction. These preclinical discoveries are increasingly translating into exciting human clinical trials. Since there are significant molecular and neurobiological overlaps among ASDs, targeted treatments developed for fragile X and Rett syndromes may be helpful for autism of different etiologies. Here, we review the targeted pharmacological treatment of fragile X and Rett syndromes and discuss related issues in both preclinical studies and clinical trials of potential therapies for the diseases.

Autism spectrum disorders (ASDs) are genetically and clinically heterogeneous and lack effective medications to treat their core symptoms. Studies of syndromic ASDs caused by single gene mutations have provided insights into the pathophysiology of autism. Fragile X and Rett syndromes belong to the syndromic ASDs in which preclinical studies have identified rational targets for drug therapies focused on correcting underlying neural dysfunction. These preclinical discoveries are increasingly translating into exciting human clinical trials. Since there are significant molecular and neurobiological overlaps among ASDs, targeted treatments developed for fragile X and Rett syndromes may be helpful for autism of different etiologies. Here, we review the targeted pharmacological treatment of fragile X and Rett syndromes and discuss related issues in both preclinical studies and clinical trials of potential therapies for the diseases. PMID:25767435

This clinical report describes a multidisciplinary approach in the rehabilitation of a 23-year-old Caucasian woman affected with Turner's syndrome and subsequently diagnosed with T4 Giant cell reparative granuloma of the right maxillary sinus. The surgical treatment included a maxillectomy and infratemporal fossa dissection followed by a free fibula palatal reconstruction, fibula bone graft of the orbital floor, dental implant placement, and prosthodontic rehabilitation. Prosthodontic planning and treatment considerations in an adult patient with Turner Syndrome are discussed.

This paper summarizes the study of acupuncture for giving up heroin and treatment of withdrawal syndrome in China from 1995 to 2003, which includes the selection of acupoints, the evaluation of the therapeutic effects, studies of acupoints and application of relevant instruments, as well as treatment of the withdrawal syndromes of heroin with acupuncture. The therapeutic effect of acupuncture and moxibustion is definite and indispensable, especially at the time when there is no specific remedy for heroin addition.

Objectives: As subacromial bursa injection is widely used for pain relief and functional improvements in patients with periarticular shoulder disorder, we aimed to present our results of subacromial tenoxicam injection in the treatment of impingement syndrome. Methods: Patients presented to the Department of Orthopaedics and Traumatology, Istanbul Medipol University with the primary complaints of shoulder pain from January 2012 to June 2013 were selected. Those who met the following inclusion criteria were finally considered: 1) who had a clinical sign of a painful arc and positive in Hawkins test and/or Neer impingement sign; 2) who had a precise rotator cuff injury including partial cuff tears, or subacromial bursitis detected during ultrasonography or MRI. The exclusion criteria were as follows: 1) who underwent shoulder surgery; 2) who had full thickness rotator cuff rupture; 3) who had hemiplegic shoulder pain; and 4) who displayed any suspected fracture on X-ray or had a recent shoulder trauma; 5) who showed limited active ROM and stiffness due to adhesive capsulitis. Thirty one shoulders out of thirty patients were treated with subacromial tenoxicam injection. Ten of them were left shoulders. Fifteen of the patients were women.. Patients had a mean age of 51.6 (30-73). Patients were evaluated 4 times. Before the first injection, 1 week after the first injection, 2 weeks after the second injection and 3 weeks after the third injection. In every injection 20 mg tenoxicam was performed. Results: In order to relieve the pain; two patients were given only one injection, thirteen patients were given two injections and “3 injections protocol” were done to fifteen patients. The mean pre- and posttreatment VAS scores were 7.9 (between, 7-9) and 2.7 (between, 2-4) points respectively. The average pre and posttreatment DASH scores were 59.41 (between, 45-80) and 14 (between, 8.3-25.8) points respectively. The mean pre and posttreatment range of motion were 106

Stiff person syndrome is a rare autoimmune disorder characterized by axial and limb progressive stiffness with surimposed spasms and production of autoantibodies to glutamic acid decarboxylase (GAD). We report a case of a 50-year-old woman who developed a stiff person syndrome resistant to conventional immunosuppressive treatments. Eight months after treatment, indexes of stiffness and spasm frequency improved, while however, the blood and CSF rates of anti-GAD increased. This observation illustrates the complexity of stiff person syndrome immunopathogenesis as well as the relevance of rituximab in this indication.

In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine, and this article reviews clinical and therapeutic aspects of the syndrome.

Somatic symptom disorders are common causes of disability and suffering, and can pose significant management challenges. Idiopathic burning mouth syndrome is a challenging somatic symptom disorder with relatively high prevalence, particularly among post-menopausal women. Here, we present the case of a woman with severe treatment refractory idiopathic burning mouth syndrome and comorbid major depressive disorder, who was successfully treated with bitemporal electroconvulsive therapy. This case highlights the potential effectiveness of electroconvulsive therapy in idiopathic burning mouth syndrome when other treatment options have been exhausted.

Shrinking lung syndrome (SLS) is a rare manifestation of systemic lupus erythematosus. We report the case of a patient with non-responding SLS (neither to glucocorticoids nor immunosupresors), who showed remarkable improvement after the onset of treatment with rituximab. Although there is a little evidence, treatment with rituximab could be proposed in SLS when classical treatment fails.

We report the case of a 24-year-old patient with known scimitar syndrome presenting with hemoptysis. Multidetector CT angiography showed the scimitar vein draining the right lung to the inferior vena cava associated with right lower lobe bronchopulmonary sequestration. The presence of hemoptysis associated with scimitar syndrome is likely secondary to an anomalous systemic arterial blood supply. We treated this patient successfully with transcatheter occlusion of the anomalous feeding arterial vessels.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy.

Female climacteric syndrome is a clinical syndrome due to autonomic nerve dysfunction occurring in women during climacteric period, which may affect their physical and mental health. Therefore, how to pass climacteric period for women without any problems, avoid or reduce the occurrence of climacteric syndrome, prevent geriatric diseases and improve life quality is a key issue now for great attention. Looking for a convenient, effective, and safer method without toxic-side effects to control the disease is a modern medical problem. By analyzing the relationship between laser technology and traditional acupuncture and moxibustion, the advantage and the existing problems on acupuncture and moxibustion for the treatment of menopausal syndrome, the application of laser methods for the mechanism research on TCM diagnosis and treatment of menopausal syndrome was discussed. It's pointed out that the laser acupuncture is safe and effective to treat menopausal syndrome. Breakthrough will be achieved from the research of the selection of the acupoint prescription and mechanism of Acupuncture and Moxibustion for the treatment of menopausal syndrome by utilizing the advantage of interdisciplinary intersection. Laser technology will make the development of acupuncture and moxibustion science possess an unprecedented field.

Patients with a lumbosacral radicular syndrome are mostly treated conservatively first. The effect of the conservative treatments remains controversial. To assess the effectiveness of conservative treatments of the lumbosacral radicular syndrome (sciatica). Relevant electronic databases and the reference lists of articles up to May 2004 were searched. Randomised clinical trials of all types of conservative treatments for patients with the lumbosacral radicular syndrome selected by two reviewers. Two reviewers independently assessed the methodological quality and the clinical relevance. Because the trials were considered heterogeneous we decided not to perform a meta-analysis but to summarise the results using the rating system of levels of evidence. Thirty trials were included that evaluated injections, traction, physical therapy, bed rest, manipulation, medication, and acupuncture as treatment for the lumbosacral radicular syndrome. Because several trials indicated no evidence of an effect it is not recommended to use corticosteroid injections and traction as treatment option. Whether clinicians should prescribe physical therapy, bed rest, manipulation or medication could not be concluded from this review. At present there is no evidence that one type of treatment is clearly superior to others, including no treatment, for patients with a lumbosacral radicular syndrome.

Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Many of the subjects in this study were on valproic acid therapy prior to their initial evaluation and exhibited increased tremor, decreased balance, and/or regression of motor skills, which resolved after tapering off of this medication. Newer antiepileptic drugs such as levetiracetam, lamotrigine, and clobazam, and to a lesser extent topiramate, appeared to be as effective - if not more so - as valproic acid and clonazepam while offering more favorable side effect profiles. The low glycemic index treatment also provided effective seizure control with minimal side effects. The majority of subjects remained on combination therapy with levetiracetam, lamotrigine, and clobazam being the most commonly used medications, indicating a changing trend when compared with prior studies.

Although the connection of [secondary hemophagocytic syndrome (sHS)] with HIV has been well documented, optimal treatment regimen is not well established. This is due not only to the rarity of the syndrome, but also to the heterogeneity of the involved population. Most cases are related to opportunistic infections or malignancies in advanced stage, but many cases are also related to seroconversion, in the primary infection setting. Moreover, in the [antiretroviral treatment (ART)] era, rare cases of ART-related sHS have been reported. In these, often fatal cases, an [immune reconstitution inflammatory syndrome (IRIS)] process is involved, posing a serious challenge to the treating physician. We hereby report a case of successful treatment of an HIV patient with primary effusion lymphoma who experienced sHS shortly after ART onset. Our patient, treated with high dose dexamethasone and gamma globulin, achieved complete remission. This case might hint possible therapeutic insights in the treatment of IRIS-related sHS. PMID:28090281

Congenital central hypoventilation syndrome is a rare syndrome present from birth, and is defined as the failure of automatic control of breathing. All patients with congenital central hypoventilation syndrome require life-long ventilatory support during sleep, although approximately a third of patients require ventilatory support 24 h per day. Diaphragm pacers offer a modality of ventilatory support that affords congenital central hypoventilation syndrome patients with maximal mobility for full-time ventilatory patients, and they may allow for a more normal lifestyle in the appropriate patient. They may permit tracheostomy decannulation in those requiring only support during sleep. Diaphragm pacing entails surgical placement of an electrode onto the phrenic nerve, connected to a subcutaneous receiver. There is an external battery-operated transmitter and antenna placed on the skin over the receiver. The transmitter emits energy, similar to radio transmission, which is converted into an electrical current by the receiver. This stimulates the phrenic nerve resulting in a diaphragmatic contraction. Settings on the transmitter include respiratory rate and electrical voltage, and are adjusted to give enough tidal volume to allow for adequate oxygenation and ventilation. Therefore, diaphragm pacing is an attractive alternative mode of mechanically assisted ventilation for many patients with congenital central hypoventilation syndrome.

Cytarabine syndrome is a rare clinical condition characterized by fever, malaise, myalgia, arthralgia, and/or rash that occurs after receipt of cytarabine. Our patient developed fever, malaise, and diffuse body pain shortly following cytarabine initiation despite receiving prophylactic dexamethasone. The patient's discomfort was treated with intravenous morphine and her other symptoms were controlled with a higher dose of dexamethasone. Although the exact cause is not fully understood, cytarabine syndrome is hypothesized to be an immune-mediated response following cytarabine-induced apoptosis that results in a rapid increase in proinflammatory cytokines. While there is no standard therapy for cytarabine syndrome, corticosteroids appear to play a role in the treatment and prevention of the condition by suppressing the proinflammatory response. Since our case describes the development of cytarabine syndrome despite dexamethasone, clinicians should monitor for this adverse event if patients begin exhibiting characteristics of this syndrome.

Takotsubo syndrome was first described in Japan in 1990. Although it has gained worldwide recognition in the last 25 years, the pathophysiology of Takotsubo syndrome remains controversial. This syndrome is often reported in elderly postmenopausal women suffering from sudden, unexpected emotional and physical stress. Its clinical presentation resembles that of acute myocardial infarction. The prognosis of Takotsubo syndrome was initially considered favorable compared with that of myocardial infarction; however, subsequent studies have demonstrated that the mortality was higher than previously reported. Prompt diagnosis followed by appropriate management for acute complications such as heart failure, arrhythmia, intraventricular thrombus, and left ventricular outflow tract obstruction is required. We discuss the current knowledge on Takotsubo syndrome to facilitate optimal diagnosis and treatment.

Abstract Background: To conduct a systematic review to answer the clinical question “What are the effectiveness of mandibular distraction osteogenesis (MDO) and its complications to treat patients with obstructive sleep apnea syndrome (OSAS)?”. Methods: A systematic search including a computer search with specific keywords, reference list search, and manual search were done. Relevant articles on MDO were assessed and selected in 3 rounds for final review based on 5 predefined inclusion criteria and followed by a round of critical appraisal. Different types of distraction and their treatment outcomes of OSAS were recorded with standardized form and analyzed. Results: Twelve articles were included in the final review. A total of 256 patients aged 7 days to 60 years were treated with either external or internal MDO, with a mean follow-up period of 6 to 37 months. The average distraction distance of 12 to 29 mm was achieved with various distraction protocols. The success rate for adult patients was 100%, and cure rates were ranged from 82% to 100%. The definition of success or cure for OSAS in children or infants was not defined. Therefore, there were no clearly reported success or cure rates for children/infants in the included studies. However, all studies reported that these patients showed significant improvement in OSAS, with many of them who avoided tracheostomy or had the tracheostomy decannulated. The complication rates were ranged from 0% to 21.4%, with most being from local wound infections or neurosensory disturbances. Conclusion: This systematic review showed that MDO was effective in resolving OSAS in adults with retrognathic mandible. MDO also showed promising results in infants or children with OSAS. From the results of this systematic review, we recommend to define the criteria of success or cure for OSAS surgery in children and infants. We also recommend setting up randomized controlled trials to compare MDO with traditional maxillomandibular

Compartment syndrome of the thigh is a rare emergency often treated operatively. The purpose of this study was to evaluate the effects of nonoperative treatment for compartment syndrome of the thigh associated with acute renal failure after the 2008 Wenchuan earthquake. Nonoperative treatment, which primarily involves continuous renal replacement therapy, was performed in 6 patients (3 men and 3 women) who presented with compartment syndrome of the thigh associated with acute renal failure. The mean mangled extremity severity score (MESS) and laboratory data regarding renal function were analyzed before and after treatment, and the clinical outcome was evaluated at 17-month follow-up. Laboratory data regarding renal function showed improvements. All 6 patients survived with the affected lower limbs intact after nonoperative treatment. Follow-up revealed active knee range of motion and increased muscle strength, as well as a recovery of sensation. A positive linear correlation was found between MESS and the time required to achieve a reduction in swelling, as well as the time required for the recovery of sensation and knee range of motion (r>0.8; Psyndrome of the thigh associated with acute renal failure.Urine alkalization, electrolyte and water balance, and continuous renal replacement therapy have played an important role in saving lives and extremities. Nonoperative treatment should be considered in the treatment of compartment syndrome of the thigh associated with acute renal failure.

BACKGROUND—Learning disability and short stature are cardinal signs of Down's syndrome. Insulin-like growth factor I (IGF-I), regulated by growth hormone (GH) from about 6 months of age, may be involved in brain development. AIMS—To study long term effects of GH on linear growth and psychomotor development in young children with Down's syndrome. Study design—Fifteen children with Down's syndrome were treated with GH for three years from the age of 6 to 9 months (mean, 7.4). Linear growth, psychomotor development, skeletal maturation, serum concentrations of IGF-I and its binding proteins (BPs), and cerebrospinal fluid (CSF) concentrations of IGF-II were studied. RESULTS—The mean height of the study group increased from −1.8 to −0.8 SDS (Swedish standard) during treatment, whereas that of a Down's syndrome control group fell from −1.7 to −2.2 SDS. Growth velocity declined after treatment stopped. Head growth did not accelerate during treatment. No significant difference in mental or gross motor development was found. The low concentrations of serum IGF-I and IGFBP-3 became normal during GH treatment. CONCLUSIONS—GH treatment results in normal growth velocity in Down's syndrome but does not affect head circumference or mental or gross motor development. Growth velocity declines after treatment stops. PMID:10086938

The concept of the metabolic syndrome, although controversial, continues to gain acceptance. Whereas each risk factor of the metabolic syndrome (visceral obesity, atherogenetic dyslipidemia, elevated blood pressure, and dysglycemia) can be dealt with individually, the recommended initial therapeutic approach is to focus on reversing its root causes of atherogenetic diet, sedentary lifestyle, and overweight or obesity. No single diet is currently recommended for patients with the metabolic syndrome, although epidemiologic evidence suggests a lower prevalence of the metabolic syndrome associated with dietary patterns rich in fruit, vegetables, whole grains, dairy products, and unsaturated fats. We conducted a literature search to identify clinical trials specifically dealing with the resolution of the metabolic syndrome by lifestyle, drugs, or obesity surgery. Criteria used for study selection were English language, randomized trials with a placebo or control group (except for surgery), a follow-up lasting>or=6 mo, and a time frame of 5 y. We identified 3 studies based on lifestyle interventions, 5 studies based on drug therapy, and 3 studies based on laparoscopic weight-reduction surgery The striking resolution of the metabolic syndrome with weight-reduction surgery (93%) as compared with lifestyle (25%) and drugs (19%) strongly suggests that obesity is the driving force for the occurrence of this condition. Although there is no "all-inclusive" diet yet, it seems plausible that a Mediterranean-style diet has most of the desired attributes, including a lower content of refined carbohydrates, a high content of fiber, a moderate content of fat (mostly unsaturated), and a moderate-to-high content of vegetable proteins.

Faecal transplantation as a therapeutic tool is increasingly reported in the scientific literature. Faecal transplantation is currently becoming a treatment for nosocomial, refractory infections with C. difficile. Furthermore, faecal transplantation has been suggested as a treatment for ulcerative colitis as well as for the metabolic syndrome. In the accumulated literature faecal transplantations appear to be safe, effective and superior to current treatments. Faecal transplantation remains a sparsely investigated treatment, however, especially for other diagnoses than C. difficile infection.

Aim: The aim of this study was to evaluate the treatment pattern and satisfaction with treatment provided to patients with Dhat syndrome. It was also aimed to study the follow-up rates and reasons for dropping out of treatment in patients with Dhat syndrome. Materials and Methods: Sixty-four subjects diagnosed with Dhat syndrome were prospectively contacted to evaluate treatment satisfaction and reason for dropout after 6 months of baseline evaluation. Sociodemographic, clinical details were recorded at initial intake and Sex Knowledge and Attitude Questionnaire was applied. After 6 months, information on treatment received, number of follow-up visits to the clinic and the outcome were extracted from the treatment records. Treatment satisfaction using Patient Satisfaction Questionnaire and reasons for dropping out from treatment were assessed by a telephonic interview. Results: Twenty-three patients were categorized as treatment completers, 14 as early drop-outs and 27 as late drop-out. The mean (standard deviation) number of visits over the period of 6 months was 3.81 (3.06). The outcome at 6 months was no change in 45.3%, improved in 32.8% and recovered in 21.9%. Higher proportion of treatment completers (52.2%) sought psychiatric help on their own compared to those who dropped out early from the treatment (7.1%). Treatment completers had better knowledge, and more positive attitude toward sex compared to late drop-out group. 34.4%of the subjects were fully satisfied with the various components of treatment. Level of satisfaction was highest for treatment completers. The most common reasons given by those who dropped out early were “not able to spare time for consultation” (21.4%) and “not prescribed medications” (21.4%). The most common reason given by those belonging to “late drop-out” group was ‘no improvement with treatment in symptoms of Dhat syndrome (40.7%). Conclusions: Patients with Dhat syndrome frequently drop-out of the treatment network

Chronic use of cannabis can result in a syndrome of hyperemesis characterized by cyclical vomiting without any other identifiable causes. Cannabinoid hyperemesis syndrome (CHS) is seldom responsive to traditional antiemetic therapies. Despite frequent nausea and vomiting, patients may be reluctant to discontinue use of cannabis. We report a case of severe, refractory CHS with complete resolution of nausea and vomiting after treatment with haloperidol in the outpatient setting. After review of the literature, we believe this is the first reported successful outpatient treatment of CHS and suggests a potential treatment for refractory patients. PMID:27597918

Therapy-related myelodysplastic syndromes are possible complications in patients treated for previous hematologic malignancies. Therapeutic strategies in these type of disorders are still not well defined: azacitidine has been recently approved for the treatment of higher risk myelodysplastic syndromes, but few data are published relating possible efficacy in therapy-related dysplastic disorders. We reported here 4 patients treated with azacitidine for therapy related dysplasia after chemotherapy for non-Hodgkin lymphoma.

KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC) and dental treatments done under General Anesthesia (GA) were reported. PMID:24151560

The best therapy regimen for refractory obstetrical antiphospholipid syndrome remains to be determined. Additional treatments with steroids, plasma exchanges and immunoglobulins failed to show any beneficial effect. We present a case of a woman who had a better pregnancy outcome after the administration of hydroxychloroquine (HCQ) as additional treatment. Furthermore, we highlighted that HCQ was able to dramatically reduce the antiphospholipid antibodies levels.

Objective: This study was carried out to determine the oral health condition and treatment needs of a group of individuals with Down syndrome in Nigeria. Method: Participants were examined for oral hygiene status, dental caries, malocclusion, hypoplasia, missing teeth, crowding and treatment needs. Findings were compared with controls across age…

Clozapine is licensed for the treatment of psychotic illnesses resistant to other antipsychotic medications. Velo-cardio-facial syndrome (VCFS) is associated with a vulnerability to psychotic illness that may be resistant to treatment with conventional typical and atypical antipsychotics. A 32-year-old man with intellectual disability (ID) and a…

Weismann-Netter-Stuhl syndrome is a rarely reported cause of bowed legs; hence a thorough clinical and radiological examination is needed for its diagnosis. In view of the paucity of reports guiding the treatment of the deformity, we propose a one-level/two-level osteotomy with intramedullary nail fixation as a treatment modality for the tibial bowing. PMID:24496066

Weismann-Netter-Stuhl syndrome is a rarely reported cause of bowed legs; hence a thorough clinical and radiological examination is needed for its diagnosis. In view of the paucity of reports guiding the treatment of the deformity, we propose a one-level/two-level osteotomy with intramedullary nail fixation as a treatment modality for the tibial bowing.

syndrome over a 4-year period and they would be randomized to receive either ganaxolone or a placebo initially and then crossed over after 6 weeks ...would be randomized to receive either ganaxolone or a placebo initially and then crossed over after 6 weeks . We have used innovative outcome measures

Cutaneous skeletal hypophosphatemia syndrome (CSHS), caused by somatic RAS mutations, features excess fibroblast growth factor-23 (FGF23) and skeletal dysplasia. Records from 56 individuals were reviewed and demonstrated fractures, scoliosis, and non-congenital hypophosphatemia that in some cases were resolved. Phosphate and calcitriol, but not skin lesion removal, were effective at controlling hypophosphatemia. No skeletal malignancies were found.

The neurobiological basis of Tourettes syndrome is reviewed for the purpose of presenting a clinically relevant account of the neuropsychology of the disorder for the clinician who is behaviorally oriented. The neuropathology and neuropsychological deficits typically found in Tourettes are reviewed, and a neuropsychological test battery is…

Chronic fatigue syndrome (CFS) is an increasingly common chronic medical condition that affects not only patients but also their families. Because family dynamics, particularly the family life cycle, can and does influence the disease process, those providing counseling to CFS patients and their families would do well to recognize these dynamics.…

Reviews pertinent literature on terroristic trauma and combines this information with the author's experience in treating adults, children, and family victims and survivors of recent terrorist attacks. Describes the psychological syndromes resulting from terrorism and discusses the relevant individual and family therapy modalities for treating…

... suggested if the pregnancy has lasted more than 34 weeks. If the fetus is less than 34 weeks, the doctor will probably prescribe corticosteroids to ... HELLP syndrome: Delivery, particularly if the pregnancy is 34 weeks or later Hospitalization to provide intravenous medication ...

Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with “low” anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

Atypical haemolytic uraemic syndrome is a rare disorder characterized by an over-activated, dysregulated alternative complement pathway due to genetic mutation and environmental triggers. Atypical haemolytic uraemic syndrome is a serious, life-threatening disease characterized by thrombotic microangiopathy, which causes haemolytic anaemia, thrombocytopaenia, and acute renal failure. Since recurrences of atypical haemolytic uraemic syndrome frequently lead to end-stage kidney disease even in renal allografts, kidney transplantation for patients with end-stage kidney disease secondary to atypical haemolytic uraemic syndrome has long been contraindicated. However, over the past several years, advancements in the management of atypical haemolytic uraemic syndrome have allowed successful kidney transplantation in these patients. The key factor of this success is eculizumab, a humanized anti-C5 monoclonal antibody, which inhibits terminal membrane-attack complex formation and thrombotic microangiopathy progression. In the setting of kidney transplantation, there are different possible triggers of post-transplant atypical haemolytic uraemic syndrome recurrence, such as brain-death related injury, ischaemia-reperfusion injury, infections, the use of immunosuppressive drugs, and rejection. Principal strategies are to prevent endothelial damage that could potentially activate alternative complement pathway activation and subsequently lead to atypical haemolytic uraemic syndrome recurrence in kidney allograft. Published data shows that prophylactic eculizumab therapy is highly effective for the prevention of post-transplant atypical haemolytic uraemic syndrome recurrence, and prompt treatment with eculizumab as soon as recurrence is diagnosed is important to maintain renal allograft function. Further study to determine the optimal dosing and duration of prophylactic therapy and treatment of post-transplant atypical haemolytic uraemic syndrome recurrence is needed.

Context Lumbar post-surgery syndrome is common and often results in chronic, persistent pain and disability, which can lead to multiple interventions. After failure of conservative treatment, either surgical treatment or a nonsurgical modality of treatment such as epidural injections, percutaneous adhesiolysis is often contemplated in managing lumbar post surgery syndrome. Recent guidelines and systematic reviews have reached different conclusions about the level of evidence for the efficacy of epidural injections and percutaneous adhesiolysis in managing lumbar post surgery syndrome. The objective of this systematic review was to determine the efficacy of all 3 percutaneous adhesiolysis anatomical approaches (caudal, interlaminar, and transforaminal) in treating lumbar post-surgery syndrome. Evidence Acquisition Data Sources: A literature search was performed from 1966 through October 2014 utilizing multiple databases. Study Selection: A systematic review of randomized trials published from 1966 through October 2014 of all types of epidural injections and percutaneous adhesiolysis in managing lumbar post-surgery syndrome was performed including methodological quality assessment utilizing Cochrane review criteria, Interventional Pain Management Techniques–Quality Appraisal of Reliability and Risk of Bias Assessment (IPM–QRB), and grading of evidence using 5 levels of evidence ranging from Level I to Level V. Data Extraction: The search strategy emphasized post-surgery syndrome and related pathologies treated with percutaneous adhesiolysis procedures. Results The search criteria yielded 16 manuscripts on percutaneous adhesiolysis assessing post-surgery syndrome. Of these, only 4 randomized trials met inclusion criteria for methodological quality assessment, 3 of them were of high quality; and the fourth manuscript was of low quality. Based on these 3 randomized controlled trials, 2 of them with one-day procedure and one with a 3-day procedure, the level of

Malaria, which is one of the three most important infectious diseases globally, is endemic in many areas of the world. Plasmodium falciparum is not endemic to Turkey but can be seen after travel to epidemic countries. Transfusion-related acute lung injury (TRALI) syndrome is a rare disease, which may develop following the transfusion of all types of blood products, including plasma. Here we describe a case of TRALI syndrome in a 29-year-old male, who presented with fever after 15 days of returning from a business trip to Burkina Faso. It developed immediately after the infusion of fresh frozen plasma during the treatment of P. falciparum malaria. The patient's condition improved on respiratory support treatment in the intensive care unit for 48 hours without the need of mechanical ventilation. This case indicated that TRALI syndrome has to be considered in the differential diagnosis as an emerging acute lung disease during the treatment of malaria.

of SVC syndrome in 1757, which was caused by a syphilitic aortic aneurysm (2). It was originally thought that the majority of cases were caused by...Introduction William Hunter, a Scottish physician who gained notoriety with regard to his description of aneurysms (1), described the first case... aneurysms , however, extrinsic compression from malignancy is now the most common etiology, with bronchogenic lung cancer and lymphoma representing

The successful management of patients with MPD syndrome is dependent on establishing an accurate diagnosis and using proper therapy based on an understanding of the etiology of the disorder. Establishing an accurate diagnosis is accomplished by taking a careful history, doing a thorough examination, and having a knowledge of the various other conditions that can produce signs and symptoms similar to those of MPD syndrome. Using proper therapy is related to recognition that MPD syndrome is a stress-induced psychophysiologic disease originating in the muscles of mastication and not an organic disease arising in the temporomandibular joint. Thus, therapy should be directed at reducing stress, relaxing tense jaw muscles, and creating an awareness by the patient of the causes of the problem, rather than at analyzing occlusion, measuring joint spaces, and producing irreversible structural changes in the dentition and the articulation. Because good results can be achieved with these uncomplicated, reversible forms of therapy, it is important that the clinician does not succumb to an unproven fad or use of an irreversible procedure that will not achieve better results.

Background: The term “SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome” includes a variety of musculoskeletal disorders associated with skin conditions; Osteitis is the most prominent skeletal lesion, whereas palmoplantar pustulosis and acne are the main skin lesions. Diagnosing SAPHO syndrome is difficult, because this syndrome is often confused with suppurative osteomyelitis, which has similar clinical and pathologic findings. SAPHO diagnosis is even more difficult when atypical sites are involved and there are no skin lesions. Patients and Methods: This case series presents five patients (3 women, 2 men), ages 27 to 44 years, who came to the Orthopaedic Department outpatient clinic for evaluation of pain in the humerus, clavicle, sacroiliac joints, and/or distal radius, and were diagnosed with SAPHO syndrome. Clinical and radiologic findings, treatment and outcome data, with up to 4 years of follow-up are presented. An extensive discussion of the clinical presentation, published literature, treatment options and outcome of SAPHO syndrome is also included. Results: Once the diagnosis of SAPHO syndrome was established, treatment with antibiotics (clindamycin) and non steroid anti-inflammatory drugs (lornoxicam) was remarkably effective. All patients did well and remained symptom free for up to four years, after a 3-8 month course of treatment. Interpretation: SAPHO syndrome should be included in the differential diagnosis when evaluating patients with lytic, sclerotic, or hyperostotic bone lesions and pain. Prompt SAPHO syndrome recognition, followed by appropriate therapy with antibiotics and NSAIDs can produce rapid symptom resolution, while avoiding unnecessary procedures and longterm antibiotic therapy. PMID:19997538

New treatment methods of syndrome of inappropriate antidiuretic hormone secretion (SIADH) has emerged with the oral vasopressin V2-receptor antagonist (VV2RA) tolvaptan, but its therapeutic window remains to be defined. We present the scientific data and describe treatment possibilities of SIADH while raising the questions: "Does the present evidence enable us to identify who to treat with VV2RAs?" and "is VV2RAs justified as first-line treatment?".

The prevalence of metabolic disturbances, collectively known as metabolic syndrome, has reached an epidemic proportion in industrialized countries. Lifestyle interventions and pharmacological treatments of such pathologies are only partially efficient and new therapeutic approaches are urgently needed. This review focuses on the recent findings describing the regulatory functions of peroxisome proliferator-activated receptor beta (PPARbeta) on lipid metabolism in several tissues and on the implications of such findings on the therapeutic usefulness of PPARbeta agonists in the treatment of particular features of the metabolic syndrome, such as insulin resistance, obesity, dyslipidemia and cardiac dysfunctions.

The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autoinflammatory syndrome. It is caused by the mutations of the mevalonate kinase gene. There is no consensus for specific therapy of HIDS, but there are some case reports and studies in regards to its treatment with drugs like colchicine, steroids, nonsteroid anti-inflammatory drugs, simvastatin, anakinra, thalidomide, and etanercept. We are reporting a case evaluated for the complaints of abdominal pain and febrile episodes with massive hepatomegaly, not common finding on physical examination, its treatment with etanercept, and long-term follow-up.

The data mining technology was introduced, and the law and peculiarity of TCM syndrome and treatment were analyzed in this paper. Concurrently, the application of the data mining in TCM researches on rule of syndrome and treatment was roughly summarized and its advantages and existing problems were pointed out. In order to enhance the efficiency and the appliance value of the mining technology and to accelerate the development of TCM research, the method for integrating multi-algorithms to make the mining was proposed.

HSV 1 encephalitis is the most common cause of sporadic and focal viral encephalitis. Opercular syndrome is characterized by swallowing and speech difficulties which are associated with deterioration of voluntary control of face, pharynx, tongue and chewing muscles. It can be developed in patients with Herpes simplex encephalitis (HSE). Here, a twelve-year-old boy who was diagnosed with HSE and Opercular syndrome, is presented. The patient recovered without sequela as a result of 30 days of intravenous and 10 days of oral acyclovir treatment. It might be important as well, to personalize and elongate the treatment in terms of prognosis.

The article puts forward the treatment of irritable bowel syndrome through regulating heart vitality since it is held that the pathological factors of the disease lay in dysfunction of heart and intestines as well as disorder of qi circulation. At the same time, the internal-external relationship between the heart the small intestine is discussed from the theory of Brain-gut Axis in modern medicine, which provides theoretical base of modern medicine for the treatment of irritable bowel syndrome through regulation of the heart functions.

The syndromictreatment of gonococcal and chlamydial infections in women seeking primary care in clinics where resources are scarce, as recommended by WHO and implemented in many developing countries, necessitates a balance to be struck between overtreatment and undertreatment. The present paper identifies factors that are relevant to the selection of specific strategies for syndromictreatment in the above circumstances. Among them are the general aspects of decision-making and caveats concerning the rational decision-making approach. The positive and negative implications are outlined of providing or withholding treatment following a specific algorithm with a given accuracy to detect infection, i.e. sensitivity, specificity and predictive values. Other decision-making considerations that are identified are related to implementation and include the stability of risk factors with regard to time, space and the implementer, acceptability by stakeholders, and environmental constraints. There is a need to consider empirically developed treatment algorithms as a basis for policy discourse, to be evaluated together with the evidence, alternatives and arguments by the stakeholders. PMID:11731816

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) is a disorder that mainly affects adults. We report a pediatric patient, initially considered to have Guillain-Barré syndrome, who continued to have progression of neuropathic disease leading to the diagnosis of chronic inflammatory demyelinating polyneuropathy. Diagnosis of POEMS was established by an abnormal bone marrow biopsy, prompted by laboratory and imaging findings, which became abnormal later in the course of the disease. POEMS syndrome is extremely rare in children, and neuropathic features in this age group have not been previously described. This case illustrates that "Guillain-Barré syndrome-like" initial presentation for POEMS, which has not been previously reported. It also emphasizes that in children with progressive acquired neuropathies that are treatment unresponsive, POEMS syndrome should be considered.

The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare syndrome of unknown etiology. Involvement of the mandible is found in almost 10% of cases. In the literature, conservative treatment is recommended most often, because decortication and partial resection are found to be ineffective and of temporary profit. We report a case of SAPHO syndrome in a 44-year-old women with unilateral hyperostosis of the mandible and massive painful swelling of the surrounding soft tissues. Owing to facial disfiguration and pain, resection of the affected bone followed by immediate reconstruction with a microvascular iliac crest flap were performed. The aim of this paper was to present the necessity of surgical intervention in SAPHO syndrome of the mandible in cases of esthetic and functional limitation.

[Purpose] The aim of this study was to analyze the effectiveness of conservative treatment of patellofemoral pain syndrome with physical exercise. [Subjects and Methods] A computer-based review conducted of four databases (PubMed, the Cochrane Library, PEDro, and the University Library) was completed based on the inclusion criteria of patellofemoral pain syndrome patients treated with physical exercise methods and examination with self-reported pain and/or functional questionnaires. [Results] The findings of ten clinical trials of moderate to high quality were evaluated to determine the effectiveness of physical exercise as conservative management for patellofemoral pain syndrome. [Conclusion] The intervention programs that were most effective in relieving pain and improving function in patellofemoral pain syndrome included proprioceptive neuromuscular facilitation stretching and strengthening exercises for the hip external rotator and abductor muscles and knee extensor muscles.

This paper describes the care and social treatment for parent(s) and child with Asperger syndrome. The children with Asperger syndrome are not easily distinguished from children without Asperger syndrome. The diagnosis can be varied depending on perspectives. They are more likely to receive inappropriate intervention due to lack of understanding. They are more likely to develop emotional and conduct problems secondarily. Because their disorders cannot be seen clearly, their difficulties are not identified. It seems that parent(s) and child with Asperger syndrome are hurt by this problem. It is difficult to operate parents' association and self-help group. They should learn it about one's diagnosis. While having a difference, an effort to live together is demanded.

Bouveret's syndrome is a rare presentation of duodenal obstruction or gastric outlet obstruction caused by a large gallstone migrating through a cholecystoduodenal or choledochoduodenal fistula. Most patients are elderly and often have underlying comorbidities, complicating surgery. Endoscopic therapy should be used as first-line treatment for these patients who are not good surgical candidates. We report a case of a 98-year-old Chinese female who presented with vomiting for three days. Esophagogastroduodenoscopy and computed tomography confirmed the diagnosis of Bouveret's syndrome. The patient successfully underwent endoscopic lithotripsy with the Holmium: Yttrium- Aluminum-Garnet (Ho: YAG) laser. Ho: YAG laser lithotripsy has been used to treat Bouveret's syndrome in four case reports. It can be recommended in patients with Bouveret's syndrome who are poor candidates for surgery.

Background Fumaric acid esters (FAEs), an oral immunomodulating treatment for psoriasis and multiple sclerosis, have been anecdotally associated with proximal renal tubular dysfunction due to a drug-induced Fanconi syndrome. Few data are available on clinical outcomes of FAE-induced Fanconi syndrome. Methods Descriptive case series with two cases of Fanconi syndrome associated with FAE treatment diagnosed at two Dutch university nephrology departments, three cases reported at the Dutch and German national pharmacovigilance databases and six previously reported cases. Results All 11 cases involved female patients with psoriasis. The median age at the time of onset was 38 years [interquartile range (IQR) 37–46]. Patients received long-term FAEs treatment with a median treatment duration of 60 months (IQR 28–111). Laboratory tests were typically significant for low serum levels of phosphate and uric acid, while urinalysis showed glycosuria and proteinuria. Eight (73%) patients had developed a hypophosphataemic osteomalacia and three (27%) had pathological bone fractures. All patients discontinued FAEs, while four (36%) patients were treated with supplementation of phosphate and/or vitamin D. Five (45%) patients had persisting symptoms despite FAEs discontinuation. Conclusions FAEs treatment can cause drug-induced Fanconi syndrome, but the association has been reported infrequently. Female patients with psoriasis treated long term with FAEs seem to be particularly at risk. Physicians treating patients with FAEs should be vigilant and monitor for the potential occurrence of Fanconi syndrome. Measurement of the urinary albumin:total protein ratio is a suggested screening tool for tubular proteinuria in Fanconi syndrome. PMID:26798466

Autoimmune lymphoproliferative syndrome (ALPS), a disorder of programmed cell death, could be due to a congenital defect in the Fas signaling pathway or other pathways for apoptosis. Most cases present with lymphoproliferation and certain autoimmune features such as thrombocytopenia, neutropenia, and anemia are due to excessive production of antibodies by B lymphocytes. Majority of cases present within the first few years of life. We report a case of ALPS presenting at birth which was refractory to splenectomy and immunosuppressive therapy, but responded to pentostatin followed by hematopoietic stem cell transplantation (HSCT).

Acute respiratory distress syndrome (ARDS) is defined by acute diffuse inflammatory lung injury invoked by a variety of systemic or pulmonary insults. Despite medical progress in management, mortality remains 27% to 45%. Patients with ARDS should be managed with low tidal volume ventilation. Permissive hypercapnea is well tolerated. Conservative fluid strategy can reduce ventilator and hospital days in patients without shock. Prone positioning and neuromuscular blockers reduce mortality in some patients. Early management of ARDS is relevant to emergency medicine. Identifying ARDS patients who should be transferred to an extracorporeal membrane oxygenation center is an important task for emergency providers.

McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, "café-au-lait" spots and hyperfunctional endocrinopathies. Pathophysiological basis is activating mutation of the gene that encodes the alpha subunit of Gs membrane protein that stimulates the intracellular production of cAMP, conferring autonomous secretion of the gland in particular. One of the uncommon endocrine manifestations is hyperthyroidism. We present a patient who had café-au-lait spots, polyostotic fibrous dysplasia and hyperthyroidism. She was treated with radioactive iodine for the symptoms of hyperthyroidism and subsequently relieved from hyperthyroid features.

The endocannabinoid system (ECS) plays a physiologic role in modulating energy balance, feeding behavior, lipoprotein metabolism, insulin sensitivity, and glucose homeostasis, which when dysregulated can all contribute to cardiometabolic risk. Evidence has suggested that the ECS is overactive in human obesity and in animal models of genetic and diet-induced obesity. ECS stimulation centrally and peripherally drives metabolic processes that mimic the metabolic syndrome. These findings have led to the development of potential novel therapeutic targets, including the drug rimonabant, a selective CB1 receptor antagonist, which has been shown to promote weight loss, reduce inflammation, improve dyslipidemia, and improve glucose homeostasis.

Chronic muscle pain syndrome is one of the main causes of musculoskeletal pathologies requiring treatment. Many terms have been used in the past to describe painful muscular syndromes in the absence of evident local nociception such as myogelosis, muscle hardening, myalgia, muscular rheumatism, fibrositis or myofascial trigger point with or without referred pain. If it persists over six months or more, it often becomes therapy resistant and frequently results in chronic generalized pain, characterized by a high degree of subjective suffering. Myofascial pain syndrome (MPS) is defined as a series of sensory, motor, and autonomic symptoms caused by a stiffness of the muscle, caused by hyperirritable nodules in musculoskeletal fibers, known as myofascial trigger points (MTP), and fascial constrictions. Fibromyalgia (FM) is a chronic condition that involves both central and peripheral sensitization and for which no curative treatment is available at the present time. Fibromyalgia shares some of the features of MPS, such as hyperirritability. Many treatments options have been described for muscle pain syndrome, with differing evidence of efficacy. Extracorporeal Shockwave Treatment (ESWT) offers a new and promising treatment for muscular disorders. We will review the existing bibliography on the evidence of the efficacy of ESWT for MPS, paying particular attention to MTP (Myofascial Trigger Point) and Fibromyalgia (FM).

Leigh syndrome is a progressive neurodegenerative disorder, affecting 1 in 40,000 live births. Most patients present with symptoms between the ages of three and twelve months, but adult onset Leigh syndrome has also been described. The disease course is characterized by a rapid deterioration of cognitive and motor functions, in most cases resulting in death due to respiratory failure. Despite the high genetic heterogeneity of Leigh syndrome, patients present with identical, symmetrical lesions in the basal ganglia or brainstem on MRI, while additional clinical manifestations and age of onset varies from case to case. To date, mutations in over 60 genes, both nuclear and mitochondrial DNA encoded, have been shown to cause Leigh syndrome, still explaining only half of all cases. In most patients, these mutations directly or indirectly affect the activity of the mitochondrial respiratory chain or pyruvate dehydrogenase complex. Exome sequencing has accelerated the discovery of new genes and pathways involved in Leigh syndrome, providing novel insights into the pathophysiological mechanisms. This is particularly important as no general curative treatment is available for this devastating disorder, although several recent studies imply that early treatment might be beneficial for some patients depending on the gene or process affected. Timely, gene-based personalized treatment may become an important strategy in rare, genetically heterogeneous disorders like Leigh syndrome, stressing the importance of early genetic diagnosis and identification of new genes/pathways. In this review, we provide a comprehensive overview of the most important clinical manifestations and genes/pathways involved in Leigh syndrome, and discuss the current state of therapeutic interventions in patients.

Objective: Aspergers Syndrome can present as comorbid with attention-deficit/hyperactivity disorder (ADHD). Very few cases of the assessment and treatment of this comorbidity in adulthood are described in the research literature. Method: A 26-year-old patient as suffering from ADHD in combination with Aspergers Syndrome is diagnosed. Treatment is…

Extensive resection of the intestine impairs its absorptive capacity and results in short bowel syndrome when the nutritional equilibrium is compromised. The remnant intestine adapts structurally to compensate, but nutritional autonomy cannot be achieved in patients with intestinal failure, requiring intravenous fluids and parenteral nutrition (PN) for sustenance of life. PN is expensive and associated with serious complications. Efforts to minimize or eliminate the need for PN heralded research focusing on the therapeutic utility of intrinsic gut factors involved in the postresection adaptation process. With the breakthrough recognition of the intestinotrophic properties of glucagon-like peptide-2, teduglutide, a recombinant analogue of glucagon-like peptide-2, is being investigated as a promising hope to mitigate the requirement of PN. Clinical studies to date have demonstrated a desirable benefit-to-risk profile in regards to its safety and efficacy. If approved for marketing, it will be the first of its class in short bowel syndrome management, offering an innovative therapeutic modality for this debilitating condition.

SYNOPSIS Rationale Positive airway pressure therapy for hypoventilation syndromes can significantly improve health-related quality of life (HR-QOL), healthcare costs, and even mortality. The sleep-disordered breathing in such individuals are quite complex and require sophisticated devices with algorithms that are designed to accurately detect and effectively treat respiratory events that includes hypoventilation, upper airway obstruction, lower airway obstruction, central apneas and central hypopneas and reduce the work of breathing while maintaining breathing comfort. Objectives The therapeutic physiological rationale for the various advanced PAP modalities and the details about the principles of operation and technology implementation are provided here. Conclusions The physiological rationale for advanced PAP modalities is sound considering the complexity of sleep-disordered breathing in patients with hypoventilation syndromes. Although such devices are increasingly used in clinical practice, the supporting clinical evidence – specifically comparative-effectiveness studies in real-life conditions -- needs to be performed. Moreover, there is much opportunity for further refining these devices that include the ability of the device to reliably monitor gas-exchange, sleep-wakefulness state, and for reducing variability in device efficacy due to provider-selected device-settings. PMID:25346650

Smith-Magenis syndrome (SMS) is a complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2. Children and adults with SMS appear to have unique neurobehavioral problems that include: sleep disturbance, self-injurious and maladaptive behaviors, stereotypies, and sensory integration disorders. We gathered retrospective psychotropic use information from parents or other caregivers of 62 individuals with SMS who were asked about use of psychotropic medication from a list of commonly used psychiatric medications. For those drugs identified, respondents were asked to rate the experience with the particular medication using a likert-type scale. Drugs were grouped into seven main categories: (1) stimulants; (2) antidepressants; (3) antipsychotics; (4) sleep aides; (5) mood stabilizers; (6) alpha 2 agonists; and (7) benzodiazepines. Relative frequencies, means and standard deviations pertaining to age and medication effect were derived for each medication category. Six of the seven medication categories examined showed no meaningful deviations from the "no change" score. The benzodiazepine group showed a mild detrimental effect. There were no gender differences in efficacy. Use of psychotropic medication started early in life (mean age 5 years), particularly with sleep aides. Although no medication category was identified as efficacious in SMS, all the categories reported herein may be considered as an option for brief symptomatic relief.

Crigler-Najjar syndrome type II is a rare familial disorder of bilirubin conjugation with consecutive life-long unconjugated hyperbilirubinemia. In the presence of severe hyperbilirubinemia, a fetus or an adult is at risk for neurological defects in this syndrome. This paper is the first report emphasizing details about this disorder in two patients from Turkey. The diagnosis was made on the basis of history and laboratory findings excluding other causes of unconjugated hyperbilirubinemia. Phenobarbital loading test and C bile analysis also supported the diagnosis. There was a study in the literature in which treatment with chlofibrate had been recommended in this syndrome. Based on the results of that study, we administered fenofibrate treatment to our patients for one month and analyzed serum bilirubin levels before and after this procedure. No improvement in bilirubin levels was observed in either case.

Background Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common. Methods The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored task force consisting of experts and primary care practioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms. Results The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS. Conclusion The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here. PMID:21352569

The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5-23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

Protozoal infection is one of the most important opportunistic infections among patients with acquired immune deficiency syndrome (AIDS). In order to enhance the knowledge of protozoal infections in AIDS, the current status of diagnosis and treatment of toxoplasmic encephalitis, cryptosporidiosis, microsporidiosis and isosporiasis was reviewed in this paper.

This study conducted a systematic review to assess the quality of existing literature on psychological treatments for irritable bowel syndrome and to quantify the evidence for their efficacy. Three independent reviewers (2 from England, 1 from the United States) coded the quality of 32 studies, 17 of which provided data suitable for meta-analysis.…

Modifying the mass contour with liposuction by developing numerous subcutaneous "tunnels" with subsequent homogeneous contractions of the overlying skin will add a new dimension to the treatment of the Launois-Bensaude syndrome. Successful correction of these deformities can be obtained without a large amount of surgical undermining and skin resection and with minimal scar formation.

The purpose of this investigation was to evaluate the effectiveness of a behavioral treatment package to reduce chronic sleep problems in children with Angelman Syndrome. Participants were five children, 2-11 years-of-age. Parents maintained sleep diaries to record sleep and disruptive nighttime behaviors. Actigraphy was added to provide…

Wernicke-Korsakoff syndrome, which is associated with high morbidity and mortality, is a more common neuropsychiatric sequela of alcohol misuse than is widely realized. It is easily prevented and treated with parenteral B-complex vitamins, although this treatment is widely under-utilized.

We describe a case of nephrotic syndrome (NS) after a 7 months treatment with D-penicillamine in a 14 years old girl with Wilson's disease, with a prompt regression at the discontinuation of the drug. Kidney function, proteinuria in particular, must be always monitored during the chelating therapy, and the drug must be discontinued as soon as signs of renal injury are detected.

The effectiveness was estimated of infrared laser radiation in the treatment of low back pain syndrome. The patients received irradiation from a semiconductor laser. The results were evaluated in 82 patients using a questionnaire of pain, taking into account its intensity, frequency, taking of analgesics, and the motor activity of the patient. The results suggest a favourable effect of infrared laser radiation on pain.

The focus of this study was to investigate experiences gained from treatment combining relaxation in flotation tank with psychotherapy for sufferers from "burn-out syndrome". Six people participated in a ten week program. They were all interviewed; the data were analyzed using the Empirical Phenomenological Psychological method. Five…

The hydrothorax is a known but rare complication of acute and chronic peritoneal dialysis. Patients with hemolytic uremic syndrome seem to be more prone to this complication. Usually discontinuation of treatment is necessary due to the lack of resolution or recurrence of hydrothorax and transfer to hemodialysis, but some patients can continue dialysis with modification of technique and with resolution of hydrothorax.

A Down's syndrome patient was hospitalized for evaluation of vomiting, abdominal pain, and a history of weight loss. A subsequent workup revealed that she had hyperthyroidism. The treatment of choice was radioactive iodine therapy. The patient had a history of consistent nausea and incontinence for urine and feces. Special problems posed by the patient and radiation safety are discussed. PMID:2936892

Exposure to premonitory sensations and response prevention of tics (ER) has been shown to be a promising new treatment for Tourette's syndrome (TS). The present study tested the hypothesis that habituation to unpleasant premonitory sensations associated with the tic is an underlying mechanism of change in ER. Patients rated the severity of…

Sedative-hypnotic drugs include gamma-Aminobutyric acid (GABA)ergic agents such as benzodiazepines, barbiturates, gamma-Hydroxybutyric acid [GHB], gamma-Butyrolactone [GBL], baclofen, and ethanol. Chronic use of these substances can cause tolerance, and abrupt cessation or a reduction in the quantity of the drug can precipitate a life-threatening withdrawal syndrome. Benzodiazepines, phenobarbital, propofol, and other GABA agonists or analogues can effectively control symptoms of withdrawal from GABAergic agents. Managing withdrawal symptoms requires a patient-specific approach that takes into account the physiologic pathways of the particular drugs used as well as the patient's age and comorbidities. Adjunctive therapies include alpha agonists, beta blockers, anticonvulsants, and antipsychotics. Newer pharmacological therapies offer promise in managing withdrawal symptoms.

Low-grade intestinal inflammation plays a key role in the pathophysiology of irritable bowel syndrome (IBS), and this role is likely to be multifactorial. The aim of this review was to summarize the evidence on the spectrum of mucosal inflammation in IBS, highlighting the relationship of this inflammation to the pathophysiology of IBS and its connection to clinical practice. We carried out a bibliographic search in Medline and the Cochrane Library for the period of January 1966 to December 2014, focusing on publications describing an interaction between inflammation and IBS. Several evidences demonstrate microscopic and molecular abnormalities in IBS patients. Understanding the mechanisms underlying low-grade inflammation in IBS may help to design clinical trials to test the efficacy and safety of drugs that target this pathophysiologic mechanism.

Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases. PMID:28018694

Dry eye is a common condition that can severely impair the quality of life. Systemic and topical omega-3 fatty acids and omega-6 fatty acids have been used as treatment for patients with dry eye disease and showed promising results. Further multicenter randomized controlled trials are required in order to establish a standardized protocol for the treatment of dry eye syndrome with those essential fatty acids. PMID:25278796

Preservation treatments for sleep respiratory disorders, such as the use of a dental device and the technique of nasal continuous positive air pressure, cause discomfort to the patient and are not radical treatments. Therefore, we performed operative therapy instead. Laser midline glossectomy was performed to treat constriction at the root of the tongue in 16 patients diagnosed with sleep apnea syndrome. We also tried lingual tonsil excision using the Harmonic Scalpel in three patients with stenosis at the base of the tongue.

The prevalence of postural orthostatic tachycardia syndrome (POTS) in adolescents and young adults has been increasing during the past decade. Despite this increase, documentation regarding treatment of these patients is just beginning to emerge. In addition, despite a call for a multidisciplinary or interdisciplinary approach, no studies have examined the efficacy of such an approach to treatment. This paper describes a case study of a 19-year-old male with debilitating POTS seen at a tertiary clinic for evaluation and subsequent intensive interdisciplinary treatment. The treatment approach is described and outcomes are presented.

Complex Regional Pain Syndrome (CRPS) is a neuropathic pain syndrome, which involves glial activation and central sensitization in the central nervous system. Here, we describe positive outcomes of two CRPS patients, after they were treated with low-dose naltrexone (a glial attenuator), in combination with other CRPS therapies. Prominent CRPS symptoms remitted in these two patients, including dystonic spasms and fixed dystonia (respectively), following treatment with low-dose naltrexone (LDN). LDN, which is known to antagonize the Toll-like Receptor 4 pathway and attenuate activated microglia, was utilized in these patients after conventional CRPS pharmacotherapy failed to suppress their recalcitrant CRPS symptoms.

Wernicke-Korsakoff syndrome is a condition with high morbidity and mortality and occurs as a consequence of thiamine deficiency. Clinical symptoms are often ambiguous and post-mortem examinations show that the syndrome is underdiagnosed and probably undertreated. There is sparse clinical evidence concerning optimal dosage and duration of treatment. This article reviews the current literature and concludes that all patients with a history of alcohol abuse should be treated with high dosage IV thiamine for an extended period of time, albeit further research is needed.

Pulmonary hypertension may occur in the antiphospholipid syndrome as a result of recurrent pulmonary embolism or microthrombosis of pulmonary vessels. We describe 3 cases of primary antiphospholipid syndrome (APS) and cor pulmonale that fulfilled the criteria for chronic major vessel thromboembolic pulmonary hypertension. Pulmonary thromboendarterectomy was performed in all 3 patients and it was successful in 2. One patient died in the immediate postoperative period from hemorrhagic pulmonary edema. Chronic thromboembolic pulmonary hypertension should be added to the list of pulmonary vascular complications of primary APS. Despite its risk, pulmonary thromboendarterectomy represents a treatment option for this otherwise lethal condition.

A systematic literature search of clinical trials of evening primrose oil (EPO) for the treatment of the premenstrual syndrome (PMS) was carried out with a view to performing a meta-analysis. Only seven placebo-controlled trials were found but only in five trials was randomization clearly indicated. Inconsistent scoring and response criteria made statistical pooling and hence a rigorous meta-analysis inappropriate. The two most well-controlled studies failed to show any beneficial effects for EPO, although because the trials were relatively small modest effects cannot be excluded. Nonetheless, on current evidence EPO is of little value in the management of premenstrual syndrome.

Bing Neel syndrome is a rare disease manifestation of Waldenström’s macroglobulinemia that results from infiltration of the central nervous system by malignant lymphoplasmacytic cells. In this guideline we describe the clinical symptoms, as well as the appropriate laboratory and radiological studies, that can aid in the diagnosis. The presentation of Bing Neel syndrome may be very diverse, and includes headaches, cognitive deficits, paresis, and psychiatric symptoms. The syndrome can present in patients with known Waldenström’s macroglobulinemia, even in the absence of systemic progression, but also in previously undiagnosed patients. Diagnostic work-up should include cerebral spinal fluid analysis with multiparameter flow cytometry to establish B-cell clonality, protein electrophoresis and immunofixation for the detection and classification of a monoclonal protein as well as molecular diagnostic testing for immunoglobulin gene rearrangement and mutated MYD88. MRI of the brain and spinal cord is also essential. The second challenge is to expand our knowledge of prognosis and treatment outcome. Prospective clinical trials on Bing Neel syndrome patients that employ uniform treatment along with appropriate laboratory cerebral spinal fluid assessments and standardized MRI protocols will be invaluable, constituting a significant step forward in delineating treatment outcome for this intriguing disease manifestation. PMID:27758817

Most investigators currently advocate prophylactic-dose heparin plus low-dose aspirin as the preferred treatment of otherwise healthy women with obstetric antiphospholipid syndrome, whilst women with a history of vascular thrombosis alone or associated with pregnancy morbidity are usually treated with therapeutic heparin doses in association with low-dose aspirin in an attempt to prevent both thrombosis and pregnancy morbidity. However, the protocols outlined above fail in about 20 % of pregnant women with antiphospholipid syndrome. Identifying risk factors associated with pregnancy failure when conventional therapies are utilized is an important step in establishing guidelines to manage these high-risk patients. Some clinical and laboratory risk factors have been found to be related to maternal-foetal complications in pregnant women on conventional therapy. However, the most efficacious treatments to administer to high-risk antiphospholipid syndrome women in addition to conventional therapy in order to avoid pregnancy complications are as yet unestablished. This is a comprehensive review on this topic and an invitation to participate in a multicentre study in order to identify the best additional treatments to be used in this subset of antiphospholipid syndrome patients.

The possible deleterious effects of feeding after a period of prolonged starvation have been known for over 60 years. The resultant biochemical disturbance, symptoms, and signs have been termed the refeeding syndrome (RS). The key to the pathophysiology is the stimulation of insulin release resulting in anabolic activity. Depleted electrolyte and micronutrient stores are overwhelmed and cellular function disrupted. A concise definition of RS is not agreed and hampers interpretation of clinical data. Hypophosphatemia and appearance of tissue edema/pathological fluid shifts are the most often agreed diagnostic criteria. The characteristics of particular patient groups at risk have been recognized for some time, and there are guidelines from the National Institute for Clinical Excellence in the UK to aid recognition of individuals at high risk along with protocols for initiating nutrition. Using loose diagnostic criteria, RS appears to occur in 4% of cases of parenteral nutrition (PN) when case records were reviewed by experts in a large study into PN care in the UK. Disappointingly, prescribers recognized only 50% of at risk cases. Early data from a similar study in New Zealand appear to show a similar pattern. Prospective series looking at patients receiving nutrition support in institutions with Nutrition Support Teams have found an incidence of 1-5%. RS is still underrecognized. Patients receiving PN should be counted as being in a high-risk category and feeding protocols to avoid RS applied. Low rates of RS then occur and death from this cause be avoided.

Nutraceutic therapies such as berberine, bitter melon, Gymnema sylvestre, Irvingia gabonensis, resveratrol and ursolic acid have been shown to help control metabolic syndrome (MetS). The effect of berberine on glucose and lipid metabolism, hypertension, obesity and MetS has been evaluated in animal models and humans. Most clinical trials involving bitter melon have been conducted to evaluate its effect on glucose metabolism; nevertheless, some studies have reported favorable effects on lipids and blood pressure although there is little information about its effect on body weight. Gymnema sylvestre helps to decrease body weight and blood sugar levels; however, there is limited information on dyslipidemia and hypertension. Clinical trials of Irvingia gabonensis have shown important effects decreasing glucose and cholesterol concentrations as well decreasing body weight. Resveratrol acts through different mechanisms to decrease blood pressure, lipids, glucose and weight, showing its effects on the population with MetS. Finally, there is evidence of positive effects with ursolic acid in in vitro and in vivo studies on glucose and lipid metabolism and on body weight and visceral fat. Therefore, a review of the beneficial effects and limitations of the above-mentioned nutraceutic therapies is presented. PMID:27076875

The metabolic syndrome (MS) is a collection of risk factors for cardiovascular disease, including obesity, hypertension, hyperinsulinemia, glucose intolerance and dyslipidemia. MS is associated with low-grade inflammation of the white adipose tissue, which can subsequently lead to insulin resistance, impaired glucose tolerance and diabetes. Adipocytes secrete proinflammatory cytokines as well as leptin and trigger a vicious circle which leads to additional weight gain largely as fat. The imbalance between inflammatory and anti-inflammatory signals is crucial to aging. Healthy aging can benefit from melatonin, a compound known to possess direct and indirect antioxidant properties, to have a significant protective effect on mitochondrial function, to enhance circadian rhythm amplitudes, to modulate the immune system and to exhibit neuroprotective actions. Melatonin levels decrease in the course of senescence and are more strongly reduced in diseases related to insulin resistance. This short review article analyzes the multiple protective actions of melatonin that are relevant to the attenuation of inflammatory responses and progression of inflammaging and how melatonin is effective to curtail MS in animal models of hyperadiposity. The clinical data supporting the possible therapeutical use of melatonin in human MS are also reviewed. Since attention has been focused on the development of potent melatonin analogs with prolonged effects (ramelteon, agomelatine, tasimelteon, piromelatine) and in clinical trials these analogs were administered in doses considerably higher than those usually employed for melatonin, clinical trials on melatonin in the range of 50-100 mg/day are needed to further assess its therapeutic value in MS.

Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

A case report of a boy with juvenile idiopathic arthritis since the age of 2 years, generalized onset, complicated by nephrotic syndrome due to secondary type A amyloidosis is presented. In the patient the disease had an especially severe course, complicated by frequent infections, making routine treatment difficult. Amyloidosis was diagnosed in the 5(th) year of the disease based on a rectal biopsy. Since the disease onset the boy has been taking prednisolone and sequentially cyclosporine A, methotrexate, chlorambucil, etanercept, and cyclophosphamide. Clinical and laboratory remission was observed after treatment with tocilizumab. After 42 months of treatment with tocilizumab the boy's condition is good. There is no pain or joint edema, and no signs of nephrotic syndrome.

Hyperbaric oxygen therapy (HBOT) is a treatment that delivers 100% oxygen at increased atmospheric pressures. The efficacy of HBOT for treating pain has been described in various animal pain models and may have clinical efficacy in the treatment of human chronic pain syndromes. We present our experience with posttraumatic Complex Regional Pain Syndrome (CRPS) type 2 in a patient who underwent 15 sessions of HBOT. A 41-year-old male with one-year history of CRPS of left foot followed by left ankle fracture demonstrated less pain, decreased swelling, less allodynia, and improvement in skin color and range of motion of the lower limb after 3 weeks of HBOT. Patient was back to work for the first time in over a year. HBOT may be considered as a valuable therapeutic tool in the treatment of long-standing CRPS. PMID:27445607

Gamma-hydroxybutyric acid (GHB) is a neurotransmitter that occurs naturally in the brain and is increasingly being used as a 'party drug' because of its relaxing and euphoria-inducing effects. GHB has a limited medical use in the treatment of narcolepsy. GHB-intoxications occur often in non-medical use, and generally result in a coma of short duration. GHB use several times a day can lead to tolerance and dependence. After sudden cessation or reduction of intensive GHB use, a severe withdrawal syndrome may occur with symptoms varying from tremor, anxiety and agitation to autonomic instability, hallucinations and delirium. Treatment of the GHB withdrawal syndrome consists of supportive care and benzodiazepines, often in high doses. The controlled detoxification of GHB using pharmaceutical GHB in an adjusted dose is currently being investigated in the Netherlands. There is no literature concerning the treatment of patients following GHB intoxication or after detoxification.

Through collecting and sorting of works, literature and medical cases regarding professor ZHANG Tangfa, it is found that his acupuncture academic ideology and clinical treatment of syndrome differentiation can be summarized as: tracing the source and paying attention to basic theory, especially the meridian theory and conception vessel and governor vessel; focusing on acupuncture manipulation and emphasizing acupuncture basic skills; highly valuing treating spirit, acquiring and maintaining needling sensation; underlining "three differentiations" that is consisted of syndrome differentiation, disease differentiation and meridian differentiation to guide the clinical prescriptions of acupoints; exploring and ingenious use of scalp acupuncture; being concerned on research of difficult and complicated diseases; advocating comparative studies to optimize the clinical treatment plan; proposing the combination of Chinese and western medicine, including diagnosis, treatment and basic theory, to improve the clinical therapeutic effects of acupuncture.

This article concisely summarizes data on the action of one of the principal and best known growth factors, the granulocyte colony-stimulating factor (G-CSF), in a mammalian organism exposed to radiation doses inducing acute radiation syndrome. Highlighted are the topics of its real or anticipated use in radiation accident victims, the timing of its administration, the possibilities of combining G-CSF with other drugs, the ability of other agents to stimulate endogenous G-CSF production, as well as of the capability of this growth factor to ameliorate not only the bone marrow radiation syndrome but also the gastrointestinal radiation syndrome. G-CSF is one of the pivotal drugs in the treatment of radiation accident victims and its employment in this indication can be expected to remain or even grow in the future.

The mortality rate for respiratory failure resulting from obesity hypoventilation syndrome is high if it requires ventilator management. We describe a case of severe acute respiratory failure resulting from obesity hypoventilation syndrome (BMI, 60.2 kg/m2) successfully treated with venovenous extracorporeal membrane oxygenation (VV-ECMO). During ECMO management, a mucus plug was removed by bronchoscopy daily and 18 L of water was removed using diuretics, resulting in weight loss of 24 kg. The patient was weaned from ECMO on day 5, extubated on day 16, and discharged on day 21. The fundamental treatment for obesity hypoventilation syndrome in morbidly obese patients is weight loss. VV-ECMO can be used for respiratory support until weight loss has been achieved. PMID:28326202

The Kasabach-Merritt syndrome is characterized by thrombocytopenia and localized coagulopathy associated with a hemangioma. Most techniques applied to eradicate the tumor or accelerate its involution (surgery, radiation therapy, embolization) are invasive and require transfusion of large amounts of blood products. In some cases, medical treatment is the only alternative. Efficacy of steroids and antifibronolytic agents has already been described, but even this approach is associated with the administration of blood products. We report two cases of infants with Kasabach-Merritt syndrome associated with cardiac and hepatic hemangiomas. At admission, both had signs of cardiac failure. They were successfully treated with prednisone and epsilon-aminocaproic acid (EACA). Blood products were not required once the diagnosis was made. These observations have important implications for the management of patients with Kasabach-Merritt syndrome because they show that even in severe cases blood transfusions can be avoided by the use of prednisone and EACA.

Fetal alcohol syndrome is defined by a triad of symptoms such as facial dysmorphology, prenatal and postnatal growth deficiency, and central nervous system dysfunction. It is the result of teratogenic effects of alcohol consumption in pregnancy. The prevalence of fetal alcohol syndrome is 1 to 3 per 1000 live births. From the neurological point of view, there is a possibility of the central nervous system dysfunction. Structural disjunctions are the consequences of fine and gross motor dysfunction, oculomotor dysfunction, and difficulties in sensorimotor integration. From the functional point view, there are complex cognitive disorders and behavioral disorders, attention disorders and impulse control disorders, learning difficulties, and social communication and perception difficulties. This paper presents a case study of a boy diagnosed with fetal alcohol syndrome at the age of four, monitored by a team of experts including a physiatrist and neuropediatrician. The boy is also included in polyvalent habilitation treatment provided by a speech therapist, rehabilitator and psychologist.

Hutchinson-Guilford progeria syndrome is an extremely rare condition classified as one of the premature ageing syndromes. This case presents a 16-year-old Israeli female patient, suffering from a variant of Hutchinson-Guilford progeria with a history of treatment with oral biphosphnates. The patient presented with typical cranial and facial features of the syndrome including delayed teeth eruption and root development probably due to insufficient jaw growth and severs retrognatic position of the maxilla and mandible. Orthodontic treatment considerations are described along with those required in light of the previous treatment by oral biphosphonates.All primary teeth were extracted in three appointments while creating as minimal trauma as possible to the surrounding tissue and alveolar bone. For now, the patient refuses to begin the orthodontic treatment course. There are no limitations to conduct any dental procedures in progeria patients, however, extreme caution must be exercised during oral surgery due to the inelasticity of tissues and dermal atrophy. Orthodontic procedure commencement should be early enough to manage the delayed development and eruption of teeth. Patients taking oral biphosphonates should be advised of this potential complication. If orthodontic treatment is considered appropriate, plans should be assessed and modified to include compromises.

Wernicke's encephalopathy (WE) is both common and associated with high morbidity and mortality and yet there is evidence that appropriate and effective prophylaxis and treatment are often not given. Effective treatment and prophylaxis may only be achieved by use of parenteral vitamin supplements, since oral supplements are not absorbed in significant amounts. Although there are rare anaphylactoid reactions associated with the use of parenteral thiamine preparations, the risks and consequences of inadequate prophylaxis and treatment, in appropriately targeted groups of patients, are far greater. It is therefore proposed that all in-patient alcohol withdrawal should be covered by prophylactic use of parenteral thiamine, that there should be a low threshold for making a presumptive diagnosis of WE, and that there is a need for guidelines to assist physicians in appropriate management of this common clinical problem.

Background: Opioid Use disorders are emerging as a serious public health concern in India. Opioid substitution treatment is one of the emerging forms of treatment in this population which needs more evidence to increase its availability and address prejudices towards the same. Materials and Methods: This is a case control study with retrospective design reviewing the charts of patients with opioid dependence syndrome registered between January 2005 to December 2012. Adherence to treatment was the outcome variable assessed in this study. Results: The odds of the Buprenorphine Maintenance Treatment (BMT) group remaining in treatment is 4.5 (P < 0.005) times more than Naltrexone Maintenance Treatment (NMT) group and 7 times (P < 0.001) more than Psychosocial intervention (PST) alone group. Discussion: We believe that these study findings will help in reducing the prejudice towards BMT and encourage further research in this field. Conclusion: BMT has a better adherence rate than other treatments in opioid use disorders. PMID:26664083

This study evaluated how often the treatment plan for carpal tunnel syndrome (CTS) changed based on electrodiagnostic test results. Secondly, we assessed factors associated with a change in the treatment plan for CTS. One-hundred-and-thirty English-speaking adult patients underwent electrodiagnostic testing in a prospective cohort study. Treatment plan was recorded before and after testing. Treatment plan changed in 25 patients (19%) based on electrodiagnostic test results. The plan for operative treatment before testing decreased significantly after testing (83% versus 72%). The best logistic regression model for no change in treatment plan included a prolonged or non-recordable median distal sensory latency (normal, prolonged, or non-recordable), and explained 24% of the variation. For surgeons that manage CTS on the basis of objective pathophysiology rather than symptoms, electrodiagnostic test results often lead to changes in recommended treatment.

This is the case of a 79-year-old man with chronic lymphocytic leukemia who presented with Guillain-Barré syndrome with features overlapping with the Miller Fisher syndrome and Bickerstaff brainstem encephalitis and positive antiganglioside GQ1b antibody about 6 months after treatment with bendamustine and rituximab. His clinical and neurologic condition continued to deteriorate despite sequential treatment with corticosteroids, intravenous immunoglobulin and plasmapheresis, but in the end, he had a complete and durable response to treatment with alemtuzumab.

Although most children with acute lymphoblastic leukaemia (ALL) do not harbor germline mutations that strongly predispose them to development of this malignancy, large syndrome registries and detailed mapping of exomes or whole genomes of familial leukaemia kindreds have revealed that 3-5% of all childhood ALL cases are due to such germline mutations, but the figure may be higher. Most of these syndromes are primarily characterized by their non-malignant phenotype, whereas ALL may be the dominating or even only striking manifestation of the syndrome in some families. Identification of such ALL patients is important in order to adjust therapy and offer genetic counseling and cancer surveillance to mutation carriers in the family. In the coming years large genomic screening projects are expected to reveal further hitherto unrecognised familial ALL syndromes. The treatment of ALL cases harboring cancer predisposing mutations can be challenging for both the physician and the patient due to their preexisting symptoms, their reduced tolerance to radio- and/or chemotherapy with enhanced risk of life-threatening organ toxicities, and the paucity of data from ALL patients with the same or similar syndromes being treated by contemporary protocols. Recent studies clearly indicate that many of these patients stand a good chance of cure, and that they should be offered chemotherapy with the intention to cure. Some of these syndromes are characterized by reduced tolerance to radiotherapy and/or specific anticancer agents, while others are not. This review summarises our current knowledge on the risk of acute toxicities for these ALL patients and provides guidance for treatment adjustments.

Testosterone deficiency syndrome is being seen in increasing percentage of men with middle and old age. Besides the typical deterioration of sexual function there is predisposition to metabolic syndrome and increased risk of cardiovascular diseases. The similarity of the effects of testosterone substitution and the dietary treatment led the authors to a retrospective analysis of patient data treated for testosterone deficiency syndrome. Data on 341 patients aged over 45 years with metabolic syndrome and diabetes, meeting criteria for the diagnosis of testosterone deficiency syndrome were divided into 5 groups: T--testosterone substitution without additional diet, T-Low-Carb--testosterone and low carbohydrate diet, T-Fat-Low--testosterone and low fat diet, Carb-Low--only low carbohydrate diet, Fat-Low--only low fat diet. We analyzed change in body weight, waist circumference, blood pressure, fasting glucose, HbAlc, HDL cholesterol and triglyceride levels within 6 months from the start of observation. The best results of all investigated parameters were obtained in patients treated with testosterone and low-carbohydrate diet and in the group treated with testosterone and low-fat diet. Slightly worse results in the group received the same diets and the worst in the group treated only with testosterone. The improvement obtained in the total testosterone therapy and diet was much greater than the simple sum of the effects of both methods witch suggests the existence of synergies.

Autism is a neurodevelopmental disorder consisting of a constellation of symptoms that sometimes occur as part of a complex disorder characterized by impairments in social interaction, communication and behavioral domains. It is a highly disabling disorder and there is a need for treatment targeting the core symptoms. Although autism is accepted…

Posterior calcaneal exostosis treatment modalities showed many controversial opinions. After failure of the conservative treatment, surgical bursectomy and resection of the calcaneal exostosis are indicated by many authors. But clinical studies also show a high rate of unsatisfactory results with a relative high incidence of complications. The minimal surgical invasive technique by an endoscopic calcaneoplasty (ECP) could be an option to overcome some of these problems. We operated on 81 patients with an age range between 25 and 55 years, 40 males and 41 females. The radiologic examination prior to surgery documented in all cases a posterior superior calcaneal exostosis that showed friction to the Achilles tendon. All patients included in the study had neither clinical varus of the hind foot nor cavus deformities. All patients had undergone a trial of conservative treatment for at least 6 months and did not show a positive response. The average follow-up was 35.3 months (12-72). According to the Ogilvie-Harris-Score, 34 patients presented good and 41 patients excellent results, while three patients showed fair results, and three patients only poor results. All the post-operative radiographs showed sufficient resection of the calcaneal spur. Only minor postoperative complications were observed. ECP is an effective and of minimal-invasive procedure for the treatment of patients with calcaneal exostosis. After a short learning curve, the endoscopic exposure is superior to the open technique has less morbidity, less operating time, and nearly no complications; moreover, the pathology can better be differentiated.

Fibromyalgia syndrome (FM) is a common chronic pain condition that affects at least 2% of the adult population in the USA and other regions in the world where FM is studied. Prevalence rates in some regions have not been ascertained and may be influenced by differences in cultural norms regarding the definition and attribution of chronic pain states. Chronic, widespread pain is the defining feature of FM, but patients may also exhibit a range of other symptoms, including sleep disturbance, fatigue, irritable bowel syndrome, headache, and mood disorders. Although the etiology of FM is not completely understood, the syndrome is thought to arise from influencing factors such as stress, medical illness, and a variety of pain conditions in some, but not all patients, in conjunction with a variety of neurotransmitter and neuroendocrine disturbances. These include reduced levels of biogenic amines, increased concentrations of excitatory neurotransmitters, including substance P, and dysregulation of the hypothalamic-pituitary-adrenal axis. A unifying hypothesis is that FM results from sensitization of the central nervous system. Establishing diagnosis and evaluating effects of therapy in patients with FM may be difficult because of the multifaceted nature of the syndrome and overlap with other chronically painful conditions. Diagnostic criteria, originally developed for research purposes, have aided our understanding of this patient population in both research and clinical settings, but need further refinement as our knowledge about chronic widespread pain evolves. Outcome measures, borrowed from clinical research in pain, rheumatology, neurology, and psychiatry, are able to distinguish treatment response in specific symptom domains. Further work is necessary to validate these measures in FM. In addition, work is under way to develop composite response criteria, intended to address the multidimensional nature of this syndrome. A range of medical treatments, including

Pneumothorax is a frequent and potentially fatal complication of mechanical ventilation in patients with acute respiratory distress syndrome (ARDS). Prompt recognition and treatment of pneumothoraces is necessary to minimize morbidity and mortality. The radiologic and clinical signs of pneumothoraces in ARDS patients may have unusual and subtle features. Furthermore, small pneumothoraces in these patients can cause severe hemodynamic or pulmonary compromise. Sparse clinical literature exists on when or how to treat pneumothoraces once they develop in patients with ARDS. In this article, the authors review the pathogenesis, radiologic signs, clinical significance, and treatment of pneumothoraces in ARDS patients. Treatment options include traditional tube thoracostomy, open thoracotomy, and image-guided percutaneous catheters.

A new combined method for treatment of chronic blepharitis associated with dry eye syndrome is developed. A total of 25 patients were enrolled. The treatment implied the use of artificial tears, Restasis, and Blephasteam spectacle frame. The course included 20 procedures on daily basis. The monitoring period was 1 year. A pronounced anti-inflammatory, reparative, and moistening effect as well as stabilization of the precorneal film was achieved in short time. Owing to the combined approach, negative side effects (such as burning, conjunctival irritation, and fluctuating vision) were minimized. Repeated treatment courses maintained the positive therapeutic effect and prolongated the remission.

Frey syndrome classically causes gustatory sweating and facial flushing. We describe 2 cases in which medical thermography was used to investigate the symptoms. Images were taken after patients chewed a sialagogue and 2 weeks later they were given injections of botulinum toxin A. Images taken 4 weeks after treatment showed a considerable reduction in sweating and facial flushing, which was supported by the results of quality of life questionnaires completed before and after treatment. Medical thermography is much cleaner than the Minor's starch iodine test. It identifies areas of gustatory sweating, changes in temperature, and vascular changes, which potentially enable treatment to be targeted accurately.

Genetic background and characteristic symptoms of three children with rare genetic syndromes: Ectrodactyly Ectodermal dysplasia Clefting (EEC), Branchio-Oculo-Facial (BOF) and focal dermal hypoplasia (Goltz syndrome) were outlined. All patients presented common otorhinolaryngological features of bilateral hearing impairment and dermal problems. Diagnostic protocol and treatment strategies for all three syndromes were presented and discussed. Skin lesions of the head and neck and degree of hearing loss were identified in clinical examination and by audiological methods. Treatment of hypoacousis and skin disorders were the primary issues in presented cases. In both the EEC syndrome and FDH our priority was to achieve and maintain hearing at the level of social efficiency. Patient with the Branchio-Oculo-Facial syndrome received a cochlear implant at the age of 12 months and was surgically treated for bilateral retroauricular fistulas. In both cases of dysplasia conservative treatment and otosurgery were applied. Results of treatment after 12 months are presented. In all patients hearing result provided good social skills in communication and a good local condition was achieved. Possibilities for future interventions were mentioned and necessity for medical follow-up and rehabilitation were stressed as key issues in maintaining results achieved with treatment presented in this study. Patient with FDH underwent CO(2) laser treatment for papillomatous lesions on her face and neck. Good aesthetic result without recurrence in follow-up examinations was achieved. Baby with the Branchio-Oculo-Facial syndrome is rehabilitated in our Cochlear Implant Center and the fistulas have healed without complications. Due to the rarity and multiplicity of symptoms in presented syndromes a standard therapy has not been established yet. However, it is of crucial importance in such cases to focus on hearing improvement in order to reach and maintain hearing at the level of social

Polycystic ovary syndrome is the most common hormonal and metabolic disorder likely to affect women. The syndrome is often associated with obesity, hyperinsulinemia and adversely affects endocrine, metabolic, and cardiovascular health. The complex feature of the syndrome requires an interdisciplinary approach to treatment, where cooperation of paediatrician, internist, gynaecologist, endocrinologist, dermatologist, psychologist and oncologist is essential. The prevention and the treatment should be based on the best available evidence. This should include physical examination, laboratory tests for hormones, serum insulin, glucose, lipids, in addition patient's preferences should be considered, too. To maximise health gain of polycystic ovarian syndrome, adequate, effective, efficient and safe treatment is necessary. This article summarises the highest available evidence provided by meta-analyses and systematic reviews of the prevention of metabolic and cardiovascular complications of the syndrome, and discusses the relevant evidence published in the literature.

In the slow channel congenital myasthenic syndrome mutations in genes encoding the muscle acetylcholine receptor give rise to prolonged ion channel activations. The resulting cation overload in the postsynaptic region leads to damage of synaptic structures, impaired neuromuscular transmission and fatigable muscle weakness. Previously we identified and characterised in detail the properties of the slow channel syndrome mutation εL221F. Here, using this mutation, we generate a transgenic mouse model for the slow channel syndrome that expresses mutant human ε-subunits harbouring an EGFP tag within the M3-M4 cytoplasmic region, driven by a ~1500 bp region of the CHRNB promoter. Fluorescent mutant acetylcholine receptors are assembled, cluster at the motor endplates and give rise to a disease model that mirrors the human condition. Mice demonstrate mild fatigable muscle weakness, prolonged endplate and miniature endplate potentials, and variable degeneration of the postsynaptic membrane. We use our model to investigate ephedrine as a potential treatment. Mice were assessed before and after six weeks on oral ephedrine (serum ephedrine concentration 89 ± 3 ng/ml) using an inverted screen test and in vivo electromyography. Treated mice demonstrated modest benefit for screen hang time, and in measures of compound muscle action potentials and mean jitter that did not reach statistical significance. Ephedrine and salbutamol show clear benefit when used in the treatment of DOK7 or COLQ congenital myasthenic syndromes. Our results highlight only a modest potential benefit of these β2-adrenergic receptor agonists for the treatment of the slow channel syndrome.

The functioning of the major subsystems of the speech production apparatus of a 12 year old female with Moebius syndrome was investigated using a battery of perceptual and physiological instrumental measures. Perceptual tests administered included: The Assessment of Intelligibility of Dysarthric Speech; the Frenchay Dysarthria Assessment; and a perceptual analysis of a speech sample based on a reading of the Grandfather Passage. Instrumental procedures included: spirometric and kinematic analysis of speech breathing; electroglottographic and aerodynamic evaluation of laryngeal function; nasometric assessment of velopharyngeal function; and evaluation of lip and tongue function using a variety of strain-gauge and pressure transducers. Consistent with the pathophysiological basis of Moebius syndrome, the major dysfunctions of the speech production mechanism were found at the level of the articulatory valve. Somewhat unexpectedly, however, impaired function was also identified at the level of the velopharyngeal and laryngeal valves by both the perceptual and instrumental assessments and at the level of the respiratory system by the physiological analysis alone. The results are discussed with reference to the neurological basis and clinical features of Moebius syndrome. The implications of the findings for the treatment of congenital dysarthria associated with Moebius syndrome are also discussed. The advantage of instrumental analysis over perceptual assessments in defining treatment goals for children with congenital dysarthria is highlighted.

The growing prevalence of metabolic syndrome as well as its impact on public health has garnered increased attention in recent years. As a result, metabolic syndrome is now considered one of the world's leading public health problems. Bioactive peptides deriving from milk proteins may play an important role in the prevention and treatment of metabolic syndrome and its complications via several mechanisms, such as the satiety response, the regulation of insulinemia levels and blood pressure, the uptake of free radicals, and alteration of the lipid profile. These peptides can be incorporated into functional foods or administered via nutraceuticals to decrease the risk of obesity, atherogenesis, arterial hypertension, and type 2 diabetes. Recent findings have generated considerable scientific and commercial interest in milk-derived bioactive peptides, leading to numerous publications on the effectiveness of these substances. This review summarizes the current knowledge on bioactive peptides derived from milk proteins and examines the potential value of these peptides in the treatment and prevention of metabolic syndrome and its complications.

Shoulder pain is a common complaint in clinical practice in Primary Care and affects 20% of the general population. The usual form of treatment is based on NSAIDs, rest, rehabilitation and, as an alternative, a local injection into the joint. There are also radiofrequency techniques on the suprascapular nerve in the cases of refractory pain to these therapies. Radiofrequency can be used in two ways: Conventional Radiofrequency, using high temperatures to the target tissue with the aim of producing a thermal neurolysis and Pulsed Radiofrequency where the temperatures are lower and produces a temporary non-destructive blockage; the latter being the most common technique in the management of shoulder pain. Although the analgesic mechanism of action of Radiofrequency is unknown, recent studies have shown that it is safe, effective and Lasting. Radiofrequency of the suprascapular nerve is a valid, effective and with few complications in the treatment of shoulder pain refractory to other therapies.

This systematic review addresses the pathophysiology, diagnostic evaluation, and treatment of several chronic pain syndromes affecting the pelvic organs: chronic proctalgia, coccygodynia, pudendal neuralgia, and chronic pelvic pain. Chronic or recurrent pain in the anal canal, rectum, or other pelvic organs occurs in 7% to 24% of the population and is associated with impaired quality of life and high health care costs. However, these pain syndromes are poorly understood, with little research evidence available to guide their diagnosis and treatment. This situation appears to be changing: A recently published large randomized, controlled trial by our group comparing biofeedback, electrogalvanic stimulation, and massage for the treatment of chronic proctalgia has shown success rates of 85% for biofeedback when patients are selected based on physical examination evidence of tenderness in response to traction on the levator ani muscle-a physical sign suggestive of striated muscle tension. Excessive tension (spasm) in the striated muscles of the pelvic floor appears to be common to most of the pelvic pain syndromes. This suggests the possibility that similar approaches to diagnostic assessment and treatment may improve outcomes in other pelvic pain disorders. PMID:22110274

Summary Children with Hurler syndrome experience progressive growth failure after hematopoietic cell transplantation (HCT). The goal of this study was to review the safety and efficacy of growth hormone (GH) in eight children with Hurler syndrome who were treated at our institution with GH for short stature or GH deficiency between 2005 and 2008. The age at initiation of treatment with GH was 9.6 ± 2.3 years and time since HCT was 7.5 ± 1.5 years. Mean GH dose was 0.32 mg/kg/week. Baseline growth velocity was 3.5 ± 1.5 cm/yr (−2.6 ± 1.9 SDS) and increased to 5.2 ± 3.0 cm/yr (−0.1 ± 3.6 SDS) after 1 year of treatment. Of 6 patients with radiographic data there was 1 progression of scoliosis, 1 progression of kyphosis, and 1 progression of genu valgum. No patient discontinued treatment due to progression of skeletal disease. One patient discontinued GH due to slipped capital femoral epiphysis (SCFE). Preliminary data suggest that one year GH treatment may modestly improve growth velocity in children with Hurler syndrome. PMID:19252529

To date, the hormonal factors used in the treatment of patients with short-bowel syndrome have been growth hormone and glucagon-like peptide (GLP)-2. In high-dose growth hormone studies, the effects on wet-weight absorption of approximately 0.7 kg/day have mainly been described in short-bowel syndrome patients with a preserved colon who also received oral rehydration solutions. Treatment with high doses of growth hormone is associated with severe adverse effects in the majority of patients. Low-dose growth hormone increased energy absorption by approximately 1.8 MJ/day in a group of 12 short-bowel syndrome patients (9 with a preserved colon), but it did not affect wet-weight absorption. Growth hormone does not seem to affect either wet-weight or energy absorption in patients with a jejunostomy. GLP-2 and the analogue teduglutide mainly affect wet-weight absorption, resulting in a mean increase in wet-weight absorption of 0.4-0.7 kg/day. The effects on energy absorption are minor at 0.4-0.8 MJ/day. However, these effects are seen in all short-bowel syndrome patients, regardless of anatomy, and the adverse effects are minor. In all studies employing growth hormone or GLP-2, the effects are transient, disappearing when treatments are discontinued. With the need for long-term treatment, adverse effects and safety issues become important. Therefore, it is recommended that treatment is initiated in research settings only and that close monitoring of the long-term effects is a part of the protocol.

A child with congenital nephrotic syndrome underwent renal transplantation, was treated for acute rejection, and then developed nephrotic syndrome and renal failure. He was felt to have minimal change disease on allograft biopsy, but failed to respond to therapy with corticosteroids. Cyclophosphamide was substituted for cyclosporine and rapidly induced a complete remission of his nephrotic syndrome. We feel that this case not only represents an important example of a useful therapeutic approach to the child with congenital nephrotic syndrome who develops nephrotic syndrome post transplantation, and also raises questions concerning the pathogenesis of congenital nephrotic syndrome.

Due to unsatisfactory results from conventional treatment of irritable bowel syndrome (IBS), complementary and alternative medicine (CAM) modalities are increasingly popular treatment alternatives. Unfortunately, most CAM clinical trials have been of poor quality, and the efficacies of these therapies have not been adequately elucidated, even through systematic reviews or meta-analyses. There is also a general lack of understanding of their mechanisms of action. Currently, insufficient evidence exists to support the use of traditional Chinese medicine, acupuncture, meditation, and reflexology for treatment of IBS. However, there is some evidence supporting the use of peppermint oil and gut-directed hypnotherapy for IBS treatment. Due to mounting evidence of the microbiologic and immunologic basis of IBS, probiotics and exclusion diets are also becoming promising treatment modalities. This paper will review the current literature on various CAM practices for IBS treatment and appraise their advantages and disadvantages in clinical practice. PMID:21437019

Aim: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS). Method: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. Results: The increasing number…

Polycystic ovary syndrome represents 80% of anovulatory infertility cases. Treatment initially includes preconception guidelines, such as lifestyle changes (weight loss), folic acid therapy to prevent the risk of fetal neural tube defects and halting the consumption of tobacco and alcohol. The first-line pharmacological treatment for inducing ovulation consists of a clomiphene citrate treatment for timed intercourse. The second-line pharmacological treatment includes the administration of exogenous gonadotropins or laparoscopic ovarian surgery (ovarian drilling). Ovulation induction using clomiphene citrate or gonadotropins is effective with cumulative live birth rates of approximately 70%. Ovarian drilling should be performed when laparoscopy is indicated; this procedure is typically effective in approximately 50% of cases. Finally, a high-complexity reproduction treatment (in vitro fertilization or intracytoplasmic sperm injection) is the third-line treatment and is recommended when the previous interventions fail. This option is also the first choice in cases of bilateral tubal occlusion or semen alterations that impair the occurrence of natural pregnancy. Evidence for the routine use of metformin in infertility treatment of anovulatory women with polycystic ovary syndrome is not available. Aromatase inhibitors are promising and longer term studies are necessary to prove their safety. PMID:26602525

While chronic constipation (CC) has a high prevalence in primary care, there are no existing treatment recommendations to guide health care professionals. To address this, a consensus group of 10 gastroenterologists was formed to develop treatment recommendations. Although constipation may occur as a result of organic disease, the present paper addresses only the management of primary CC or constipation associated with irritable bowel syndrome. The final consensus group was assembled and the recommendations were created following the exact process outlined by the Canadian Association of Gastroenterology for the following areas: epidemiology, quality of life and threshold for treatment; definitions and diagnostic criteria; lifestyle changes; bulking agents and stool softeners; osmotic agents; prokinetics; stimulant laxatives; suppositories; enemas; other drugs; biofeedback and behavioural approaches; surgery; and probiotics. A treatment algorithm was developed by the group for CC and constipation associated with irritable bowel syndrome. Where possible, an evidence-based approach and expert opinions were used to develop the statements in areas with insufficient evidence. The nature of the underlying pathophysiology for constipation is often unclear, and it can be tricky for physicians to decide on an appropriate treatment strategy for the individual patient. The myriad of treatment options available to Canadian physicians can be confusing; thus, the main aim of the recommendations and treatment algorithm is to optimize the approach in clinical care based on available evidence. PMID:17464377

Irritable bowel syndrome with diarrhea (IBS-D) is a common, chronic functional gastrointestinal disorder with symptoms that can be distressing for patients and often result in substantially impaired quality of life. This review focuses on providing clinicians with information on practical, evidence-based treatment for IBS-D. Current therapies commonly used for the treatment of IBS-D, including pharmacologic and nonpharmacologic interventions, are briefly reviewed, followed by discussion of the emergent pharmacologic treatments (rifaximin and eluxadoline) and medical foods (IBgard® and EnteraGam®). Given the lack of a standard treatment algorithm for IBS-D and the emergence of new pharmacologic therapies, treatment needs to be tailored to the individual patient and take into account the severity of disease. In this context, the latter part of this manuscript examines how treatments for IBS-D can be used in clinical practice by presenting three patient case scenarios with varying degrees of IBS-D severity. For each case, the patient’s medical history and clinical presentation are related to the Rome Foundation multidimensional clinical profile (MDCP) and potential treatment options with current and emergent therapies are reviewed. The interplay of gastrointestinal symptoms and their psychosocial impact, as well as the importance of a patient-centered approach to therapy, are discussed. Consideration is given to the potential need for combination therapies and how emergent treatments could fit into the treatment pathway for mild, moderate, and severe cases of IBS-D in clinical practice. PMID:28203283

Patients recovered from Ebola virus infection may experience short- and long-term physical, neuropsychological and social sequelae, including arthralgia, musculoskeletal pain, ophthalmic inflammation, auditory problems, fatigue, confusion, insomnia, short-term memory impairment, anxiety, depression and anorexia, all lasting from two weeks to more than two years. Currently there are no treatments for post Ebola sequelae. We hypothesize that cannabidiol (CBD) may attenuate some of these post Ebola sequelae, several of which have been postulated to result from inflammation and/or an autoimmune response. CBD has anti-inflammatory actions in various animal models. Clinical studies have shown that oral administration of CBD, compared to placebo, significantly reduces anxiety, has antinociceptive and anticonvulsant actions, and may be therapeutic for insomnia. Overall, CBD has a number of pharmacological effects that may significantly improve the mental and somatic health of patients suffering from post Ebola sequelae. In humans, CBD, at therapeutic doses, does not: 1) elicit dependence or tolerance; 2) significantly alter heart rate or blood pressure; 3) affect gastrointestinal transit; 4) produce significant cognitive or psychomotor impairments. Mild sedation and nausea are the most commonly reported adverse effects associated with CBD.CBD, based on its pharmacological effects and favorable safety profile, should be considered as a treatment for individuals with post Ebola sequelae.

Interstitial cystitis, presently known as bladder pain syndrome, has been recognized for over a century but is still far from being understood. Its etiology is unknown and the syndrome probably harbors different diseases. Autoimmune dysfunction, urothelial leakage, infection, central and peripheral nervous system dysfunction, genetic disease, childhood trauma/abuse, and subsequent stress response system dysregulation might be implicated. Management is slowly evolving from a solo act by the end-organ specialist to a team approach based on new typing and phenotyping of the disease. However, oral and invasive treatments are still largely aimed at the bladder and are based on currently proposed pathophysiologic mechanisms. Future research will better define the disease, permitting individualization of treatment. PMID:26229509

The Chiari malformation type I (CM-I) has been associated with sleep-disordered breathing, especially central sleep apnea syndrome. We report the case of a 44-year-old female with CM-I who was referred to our sleep laboratory for suspected sleep apnea. The patient had undergone decompressive surgery 3 years prior. An arterial blood gas analysis showed hypercapnia. Polysomnography showed a respiratory disturbance index of 108 events/h, and all were central apnea events. Treatment with adaptive servo-ventilation was initiated, and central apnea was resolved. This report demonstrates the efficacy of servo-ventilation in the treatment of central sleep apnea syndrome associated with alveolar hypoventilation in a CM-I patient with a history of decompressive surgery. PMID:25410846

Midface hypoplasia or retrusion remains a persistent feature of syndromic craniosynostosis years after successful treatment of the cranium. Although expansion of the cranial vault in infancy by traditional fronto-orbital advancement, posterior expansion, or both, can treat the immediate intracranial constriction, midface hypoplasia and its stigmata of exorbitism, sleep apnea, central face concavity, and malocclusion remain suboptimally treated. Initial enthusiasm for the procedures was tempered due to a high rate of infectious complications; timing and indications for surgery continue to stir controversy. During the last decade renewed interest with the monobloc and facial bipartition procedure using distraction osteogenesis with either an internal or external distraction system has decreased morbidity significantly. These procedures have re-emerged as powerful and comprehensive tools in the treatment of syndromic midface hypoplasia. PMID:26417208

A 10-year-old boy presented to our clinic with left lower extremity swelling present for 1 year with deterioration of symptoms during the prior month. Laboratory investigation for deep vein thrombosis was negative. Venography and computed tomography scan of the pelvis showed compression of the left common iliac vein by the right common iliac artery. A diagnosis of iliac vein compression syndrome was made. After venography, endovascular treatment was planned. The stenosis did not respond to balloon dilatation and a 12 mm Wallstent was placed with successful outcome. The patient's symptoms improved but did not resolve completely, probably due to a chronically occluded left superficial femoral vein that did not respond to endovascular recanalization. To the best of our knowledge, this is the first case of successful endovascular treatment of iliac vein compression syndrome with stent placement in a pediatric patient.

Stiff Person Syndrome (SPS) is one of the rarest autoimmune neurological disorders, which is mostly reported in women. It is characterised by fluctuating muscle rigidity and spasms. There are many variants of SPS, these include the classical SPS, Stiff Leg Syndrome (SLS), paraneoplastic variant, gait ataxia, dysarthria, and abnormal eye movements. Studies have shown that the paraneoplastic variant of SPS is more common in patients with breast cancer who harbour amphiphysin antibodies, followed by colon cancer, lung cancer, Hodgkin's disease, and malignant thymoma. Currently, the treatment for SPS revolves around improving the quality of life by reducing the symptoms as far as possible with the use of GABAergic agonists, such as diazepam or other benzodiazepines, steroids, plasmapheresis, and intravenous immunoglobulin (IVIG). There have been random clinical trials with Rituximab, but nothing concrete has been suggested. A treatment approach with standard drugs and cognitive behavioral therapy (CBT) seems to be promising.

An aim of this study was to assess clinical efficacy and tolerability of tagista in the symptomatic treatment of vestibular vertigo and Ménière syndrome. Thirty-two patients, 16 women and 16 men, aged from 25 to 67 years, were examined. Vertigo was caused by chronic brain ischemia in 17 cases and by the disturbance of blood circulation in the vertebral-basilar system in 14 patients with osteochondrosis of cervical spine. One patient was diagnosed with Ménière syndrome. Tagista was used in dose 24 mg twice a day during 4 weeks in the combination with standard treatment, exercise therapy and stability training. The results revealed a statistically significant effect of the drug on main symptoms (frequency, duration and intensity of vertigo attacks etc) and its good tolerability that allowed to recommend the drug in neurological practice.

Rett syndrome is a neurodevelopmental disease due to Mecp2 gene mutations that is associated to complex neurological symptoms, with bioaminergic deficits and life-threatening apneas related to sudden and unexpected death. In male mice, Mecp2-deficiency similarly induces medullary bioaminergic deficits, severe apneas and short life span. Here, we show that long-term oral treatment of Mecp2-deficient male mice with desipramine, an old drug of clinical use known to block norepinephrine uptake and to strengthen its synaptic effects, significantly alleviates their breathing symptoms and prolongs their life span. Although these mouse results identify desipramine as the first oral pharmacological treatment potentially able to alleviate breathing symptoms of Rett syndrome, we recommend further studies of desipramine effects in Mecp2-deficient mice before attempting any clinical trials in Rett patients.

Prolonged steroid therapy is generally used for steroid-dependent nephrotic syndrome in pediatric patients. However, dwarfism secondary to a long-term regimen and its successful reverse is rarely reported. The underlying mechanism of dwarfism is still poorly understood, as both long-term steroid use and nephrotic syndrome may interact or independently interfere with the process of growth. Here, we present a 17-year-old patient with dwarfism and steroid-dependent nephrotic syndrome and the successful treatment by recombinant human growth factor and cyclosporine A with withdrawal of steroid. We also briefly review the current understanding and the management of dwarfism in pediatric patients with nephrotic syndrome.

The postural orthostatic tachycardia syndrome is a disease characterized by excessively increased heart rate during orthostatic challenge associated with symptoms of orthostatic intolerance including dizziness, exercise intolerance, headache, fatigue, memory problems, nausea, blurred vision, pallor, and sweating, which improve with recumbence. Postural orthostatic tachycardia syndrome patients may present with a multitude of additional symptoms that are attributable to vascular vasoconstriction. Observed signs and symptoms in a patient with postural orthostatic tachycardia syndrome include tachycardia at rest, exaggerated heart rate increase with upright position and exercise, crushing chest pain, tremor, syncope, loss of vision, confusion, migraines, fatigue, heat intolerance, parasthesia, dysesthesia, allodynia, altered traditional senses, and thermoregulatory abnormalities. There are a number of possible dermatological manifestations of postural orthostatic tachycardia syndrome easily explained by its recently discovered pathophysiology. The author reports the case of a 22-year-old woman with moderate-to-severe postural orthostatic tachycardia syndrome with numerous dermatological manifestations attributable to the disease process. The cutaneous manifestations observed in this patient are diverse and most noticeable during postural orthostatic tachycardia syndrome flares. The most distinct are evanescent, hyperemic, sharply demarcated, irregular patches on the chest and neck area that resolve upon diascopy. This distinct "evanescent hyperemia" disappears spontaneously after seconds to minutes and reappears unexpectedly. Other observed dermatological manifestations of this systemic disease include Raynaud's phenomenon, koilonychia, onychodystrophy, madarosis, dysesthesia, allodynia, telogen effluvium, increased capillary refill time, and livedo reticularis. The treatment of this disease poses a great challenge. The author reports the unprecedented use of an oral

A case of severe, oral, not otherwise specified ulcers in a human immunodeficiency virus-infected patient is described. The lesions did not respond to acyclovir, prednisone, pentoxifylline, or foscarnet sodium therapy. Dramatic clinical improvement and progressive ulcer healing were observed after starting oral thalidomide therapy. Clinicians should be aware of the usefulness of thalidomide for the treatment of acquired immunodeficiency syndrome-associated not otherwise specified ulcerations.

Twelve consecutive patients with Guillain-Barré syndrome were treated with plasma exchange. Examination two weeks after treatment was commenced showed that three had not improved. Five showed only a minimal improvement, which was considered to be compatible with the natural history of the disease. The remaining four patients showed a more substantial improvement which could have been related to the plasma exchange. PMID:7131022

Fifteen patients with primary GH resistance (Laron syndrome, LS) were studied before and during 6 months of daily replacement treatment with IGF-I. The main findings were that patients with LS and normal or high serum GH binding protein (GHBP) were less obese than those with a negative GHBP, and that serum leptin levels varied with body mass as in other types of obesity.

A 50-day-old, female miniature schnauzer dog was presented for astasia, dorsoventral flattening of the thorax, hypoplasia of hind-limb muscles, stiffness of hind-limb joints, paddling leg motion, and panting. The dog was diagnosed with swimmers syndrome. The dog recovered completely following 40 days of home-care treatment that involved environmental and nutritional management along with intensive physiotherapy. PMID:24155492

The brain is the sea of marrow, stores the cerebral spirit and dominates all the life activities of the human body, which are the basic TCM knowledge about the brain. Based on this knowledge, the pathogenesis of climacteric syndrome is considered as consumption and deficiency of kidney-essence, and incoordination between the brain and kidney. The principle of acupuncture treatment should be soothing the mind and tonifying the kidney.

The authors describe a combined method for the treatment of irritated bowel syndrome with the use of magnetotherapy, drinking mineral waters, and radon baths. It was shown that prescription of preformed physical factors improves the psycho-emotional status of the patients due to normalization of the motor-evacuative function of the gastrointestinal tract. The overall result of this therapeutic modality is the improvement of the quality of life of the patients.

Posterior fossa malformations-haemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe syndrome (also known as PHACES syndrome) is a rare neurocutaneous disorder. Children presenting with these manifestations need careful ophthalmological, cardiac and neurological assessment. They may have one or more of these extracutaneous manifestations, the most common being cerebral and cardiovascular anomalies. There is controversy about treating these children with propranolol especially if they have cerebrovascular involvement with narrow, dysplastic or absent blood vessels. The concern with propranolol is that hypotension may lead to reduced cerebral blood flow and neurological consequences. Prior to propranolol the systemic treatment for haemangiomas was prednisolone and then the concern was the opposite, namely hypertension. Our proposal was whether a combination of these two drugs would provide a safer and faster recovery. We report three retrospective cases of PHACES syndrome, each of whom received treatment with a combination of propranolol and prednisolone: two children were started on prednisolone and propranolol was added because the haemangiomas failed to respond adequately; the third child was started on propranolol and developed peripheral ischaemia and ulceration necessitating a reduction in dose addition of a low dose of prednisolone. All three patients, who failed on the one treatment, responded well to combination therapy without any significant complications. These outcomes suggest that for some patients with PHACES syndrome the use of combination treatment with propranolol and prednisolone could be advantageous, potentially allowing for the introduction of low doses of each with an enhanced combined effect. The doses can be increased gradually depending on the magnetic resonance imaging findings.

Fludarabine is one of the most recent and promising therapeutic agents for chronic lymphocytic leukaemia. We describe a patient who developed tumour lysis syndrome after the first course of treatment with fludarabine and call attention to this uncommon but potentially lethal complication that has not been previously taken into account in this neoplasia. It should always be anticipated when patients are treated with new and effective drugs. PMID:7971632

Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes catalyzing the degradation of the glycosaminoglycan heparan sulfate. MPS III is clinically characterized by progressive dementia with distinct behavioral disturbances and relatively mild somatic disease. This review will summarize and discuss the available and potential future therapeutic options for patients with MPS III. This includes enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), chaperone-mediated therapy, and gene therapy. Although clinical efficacy has not yet been fully demonstrated for any of these therapies, it is likely that future developments will lead to disease-modifying treatment for this devastating disease.

PURPOSE: Water drinking increases blood pressure in a substantial proportion of patients who have severe orthostatic hypotension due to autonomic failure. We tested the hypothesis that water drinking can be used as a practical treatment for patients with orthostatic and postprandial hypotension, as well as those with orthostatic tachycardia. SUBJECTS AND METHODS: We studied the effect of drinking water on seated and standing blood pressure and heart rate in 11 patients who had severe orthostatic hypotension due to autonomic failure and in 9 patients who had orthostatic tachycardia due to idiopathic orthostatic intolerance. We also tested the effect of water drinking on postprandial hypotension in 7 patients who had autonomic failure. Patients drank 480 mL of tap water at room temperature in less than 5 minutes. RESULTS: In patients with autonomic failure, mean (+/- SD) blood pressure after 1 minute of standing was 83 +/- 6/53 +/- 3.4 mm Hg at baseline, which increased to 114 +/- 30/66 +/- 18 mm Hg (P <0.01) 35 minutes after drinking. After a meal, blood pressure decreased by 43 +/- 36/20 +/- 13 mm Hg without water drinking, compared with 22 +/- 10/12 +/- 5 mm Hg with drinking (P <0.001). In patients with idiopathic orthostatic intolerance, water drinking attenuated orthostatic tachycardia (123 +/- 23 beats per minute) at baseline to 108 +/- 21 beats per minute after water drinking ( P <0.001). CONCLUSION: Water drinking elicits a rapid pressor response in patients with autonomic failure and can be used to treat orthostatic and postprandial hypotension. Water drinking moderately reduces orthostatic tachycardia in patients with idiopathic orthostatic intolerance. Thus, water drinking may serve as an adjunctive treatment in patients with impaired orthostatic tolerance.

Background. The characteristics of treatment based on syndrome differentiation (TBSD) cause great challenges to evaluate the effectiveness of the clinical methods. Objectives. This paper aims to evaluate the influence of physician to personalized medicine in the process of TBSD. Methods. We performed a randomized, triple-blind trial involving patients of primary insomnia treated by 3 physicians individually and independently. The patients (n = 30) were randomly assigned to receive treatments by the 3 physicians for every visit. However, they always received the treatment, respectively, prescribed by the physician at the first visit. The primary outcome was evaluated, respectively, by the Pittsburgh Sleep Quality Index (PSQI) and the TCM symptoms measuring scale. The clinical practices of the physicians were recorded at every visit including diagnostic information, syndrome differentiation, treating principles, and prescriptions. Results. All patients in the 3 groups (30 patients) showed significant improvements (>66%) according to the PSQI and TCM symptoms measuring scale. Conclusion. The results indicate that although with comparable effectiveness, there exist significant differences in syndrome differentiation, the treating principles, and the prescriptions of the approaches used by the 3 physicians. This means that the physician should be considered as an important factor for individualized medicine and the related TCM clinical research. PMID:24288563

This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients’ responses. PMID:25071396

This review considers the use of the first selective blocker of the cannabinoid receptor type 1, rimonabant, to reduce weight and improve cardiovascular disease risk factors in obese patients with metabolic syndrome or multiple cardiovascular disease risk factors. In 4 large trials-Rimonabant in Obesity (RIO)-Lipids, RIO-Europe, RIO-North America, and RIO-Diabetes-after 1 to 2 years of treatment, rimonabant (20 mg/day) led to a significantly greater weight loss and reduction in waist circumference compared with placebo. Treatment with rimonabant was also associated with other favorable changes, including better glycemic control in type 2 diabetes mellitus, improved lipid profile, reduced blood pressure, increased adiponectin levels, fall in high-sensitivity C-reactive protein concentrations, and an overall decrease in the prevalence of the metabolic syndrome. Initial experience with rimonabant shows that it is generally well tolerated with the most common side effect of mild nausea. Rimonabant may be a useful adjunct to lifestyle and behavior modification in the treatment of obese subjects with metabolic syndrome or multiple cardiometabolic risk factors.

Cancer cachexia is a multi-organ, multifactorial and often irreversible syndrome affecting many patients with cancer. Cancer cachexia is invariably associated with weight loss, mainly from loss of skeletal muscle and body fat, conditioning a reduced quality of life due to asthenia, anorexia, anaemia and fatigue. Treatment options for treating cancer cachexia are limited. The approach is multimodal and may include: treatment of secondary gastrointestinal symptoms, nutritional treatments, drug, and non-drug treatments. Nutritional counselling and physical training may be beneficial in delaying or preventing the development of anorexia-cachexia. However, these interventions are limited in their effect, and no definitive pharmacological treatment is available to address the relevant components of the syndrome. Anamorelin is a first-in-class, orally active ghrelin receptor agonist that binds and stimulates the growth hormone secretagogue receptor centrally, thereby mimicking the appetite-enhancing and anabolic effects of ghrelin. It represents a new class of drug and an additional treatment option for this patient group, whose therapeutic options are currently limited. In this review we examine the mechanisms of anamorelin by which it contrasts catabolic states, its role in regulation of metabolism and energy homeostasis, the data of recent trials in the setting of cancer cachexia and its safety profile.

Purpose: Benzodiazepines (BDZs) are the drugs of choice to prevent the symptoms of alcohol withdrawal syndrome (AWS). Various treatment protocols are published and have been shown to be effective in both office-managed and facility-managed treatment of AWS. The aim of this scientific commentary is to demonstrate the differences in the expected exposure to BDZs during AWS treatment using different treatment regimens available in the literature, in patients with or without alcoholic liver cirrhosis. Methods: Diazepam and lorazepam AWS protocols were examined and reviewed in the literature, and blood plasma levels were examined and compared, respectively. Results: Considerable variation in the blood levels with the different dosing schedules was found. Because the drugs are metabolized differently, we have also shown that liver disease affects the blood levels of diazepam, but not of lorazepam. Conclusions: Differences in treatment regimens, the choice of BDZ, as well as the presence of liver cirrhosis can substantially alter the exposure of patients to drugs used for AWS treatment. Outpatient treatment of AWS has been shown to be relatively safe and effective for the treatment of AWS but patients should be carefully monitored. PMID:26322116

Alcoholic patients suffer from harmful allostatic neuroplastic changes in the brain causing an acute withdrawal syndrome upon cessation of drinking followed by a protracted abstinence syndrome and an increased risk of relapse to heavy drinking. Benzodiazepines have long been the treatment of choice for detoxifying patients and managing alcohol withdrawal syndrome (AWS). Non-benzodiazepine anticonvulsants (NBACs) are increasingly being used both for alcohol withdrawal management and for ongoing outpatient treatment of alcohol dependence, with the goal of either abstinence or harm reduction. This expert narrative review summarizes the scientific basis and clinical evidence supporting the use of NBACs in treating AWS and for reducing harmful drinking patterns. There is less evidence in support of NBAC therapy for AWS, with few placebo-controlled trials. Carbamazepine and gabapentin appear to be the most promising adjunctive treatments for AWS, and they may be useful as monotherapy in select cases, especially in outpatient settings and for the treatment of mild-to-moderate low-risk patients with the AWS. The body of evidence supporting the use of the NBACs for reducing harmful drinking in the outpatient setting is stronger. Topiramate appears to have a robust effect on reducing harmful drinking in alcoholics. Gabapentin is a potentially efficacious treatment for reducing the risk of relapse to harmful drinking patterns in outpatient management of alcoholism. Gabapentin's ease of use, rapid titration, good tolerability, and efficacy in both the withdrawal and chronic phases of treatment make it particularly appealing. In summary, several NBACs appear to be beneficial in treating AWS and alcohol use disorders.

Background Many cases of myoclonus-dystonia (M-D) are due to mutations in SGCE (DYT11). For the majority of patients, myoclonus is relatively more severe than dystonia and can lead to significant functional disability. Deep brain stimulation has been chosen as a treatment option in some patients given that M-D often responds poorly to oral pharmacotherapy. Methods Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine. Results Both subjects showed marked improvement in myoclonus and mild-to-moderate improvement in dystonia with tetrabenazine. In addition, the response to tetrabenazine has been sustained for years. Conclusions A therapeutic trial of tetrabenazine should be considered in patients with M-D, especially before consideration of deep brain stimulation. An adequately powered multi-center, double-blind study of tetrabenazine will be required to determine the relative contributions of tetrabenazine therapy to myoclonus, dystonia, quality of life, and activities of daily living in patients with M-D. PMID:25406829

One-hundred and seven patients, aged 7-12 years, with attention deficit hyperactivity disorder (ADHD) were studied. All children were examined with psychoneurologist, additional methods included electroencephalography (EEG), ultrasound dopplerography of brachiocephalic vessels (USDG), rheoencephalography (REG), craniography and spondilography of the cervical spine. Perinatal adversities were recorded in 81.3% of children; pathological pregnancy (gestosis-26.6%, threat of miscarriage in 21.5%, treatment of latent urogenital infections -27.1% and others) and pathological deliveries (powerless labor-54.2%, asphyxia-21.5% etc) were also often observed; 43.9% of patients were discharged from the maternity hospital with diagnosis of hypoxic-traumatic CNS lesion. Mild mental retardation during the first year of life was reported in 41.1% of children, in 21.5% it remained for 3 years. The neurological study revealed coordination disturbances (31.8%), cervical insufficiency (67.9%), pyramidal insufficiency (33.6%). The changes correlating with perinatal pathology were shown by EEG, USDG and REG. Spondilography of the cervical spine confirmed the signs of the survived natal trauma in 45.8% of cases. All children received the complex therapy including drugs which improve the cerebral dynamics, nootropics, electrophoresis of spasmolytics in the cervical spine, psychotherapy sessions. Forty patients in addition received atomoxetine (strattera), the inhibitor of noradrenalin reuptake. The physician and parents as well reported the positive dynamics of patient's state as assessed the neurological status and performance on neuropsychological tests on attention concentration.

Auricular pruritus coexisted with multiple cranial nerve lesions in Ramsay Hunt syndrome has been rarely reported in the literature especially its treatment. However, auricular pruritus cannot be better improved along with the improvement of multiple cranial nerve lesions. We tried to solve the problem with acupuncture and got experience from it. The following 2 cases of Ramsay Hunt syndrome show a potential modality for the treatment of auricular pruritus with acupuncture.

Patients with syndromic craniosynostosis are at risk for elevated intracranial pressure because of various physiologic and anatomic abnormalities. The aims of this study were to determine the prevalence of papilledema in syndromic craniosynostosis, to evaluate the results of the treatment, and to examine the risk factors. This is a retrospective study on 84 patients with Apert, Crouzon, or Pfeiffer syndrome. Papilledema was defined as blurring of the margins of the optic disk. The association between clinical symptoms, beaten-copper pattern on skull radiograph, ventricular dilatation on computed tomography scan, and papilledema was assessed. Papilledema was present in 51% of the patients. No relation between specific clinical symptoms and papilledema was found. The significant associations were complex craniosynostosis, exorbitism, and ventricular dilatation. The prevalence of papilledema in patients with Apert, Crouzon, or Pfeiffer syndrome is high, not only before cranial decompression but also after vault expansion. Annual fundoscopy is recommended to screen for papilledema. We consider that early decompressive surgery (within the first year of age) prevents the development of papilledema and, most likely, elevated intracranial pressure.

Variations of the anterior transposition of the ulnar nerve for cubital tunnel syndrome include subcutaneous, submuscular, intramuscular, and subfascial methods. We introduce a modification of subfascial transposition, which is designed to facilitate nerve gliding by wrapping the nerve with fascia. Twenty patients with wrapping surgery following the diagnosis of cubital tunnel syndrome were reviewed retrospectively. Preoperative electrodiagnostic studies were performed in all patients and all of them were rechecked postoperatively. The preoperative mean value of motor conduction velocity (MCV) was 37.1 ± 6.7 m/s within the elbow segment and this result showed a decrease compared to the result of MCV with 53.9 ± 6.9 m/s in the below the elbow-wrist segment with statistical significance (P < 0.05). Postoperative mean values of MCV were improved in all of 20 patients to 47.6 ± 5.5 m/s (P < 0.05). 19 patients of 20 (95%) reported good or excellent clinical outcomes according to a modified Bishop scoring system. The surgical treatment methods for cubital tunnel syndrome have their own advantages and disadvantages, and the preferred method differs depending on the surgeon. The wrapping method of anterior transposition is a newly designed alternative method modified from subfascial transposition. This method could be an alternative option to treat cubital tunnel syndrome.

Context: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature, relating to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management. Aims of Part 2: Contribute to the sparse scientific knowledge about pathogenesis and involved genetics. Subjects and Methods: An analysis of this large database was conducted focusing on genetic involvement, family history, and the incidence of additional syndromes. Results: Beside of differences related to clinical signs of dyspnea, feeding problems and mortality rates, various concomitant syndromes, and genetic abnormalities were found in cases of Fairbairn–Robin triad (FRT) and Siebold–Robin sequence (SRS), in addition to differences in relation to clinical signs of dyspnea, feeding problems, and mortality rates. Conclusion: Multiple FRT cases presented with various concomitant syndromes and genetic abnormalities, but only one type occurred in two SRS cases. The latter presented a significantly different mortality rate when compared to the FRT subgroup. PMID:27563604

Mood disturbances are characteristic and dominant feature of Mood disorders. Bipolar Affective Disorder (BAD) is a mood disorder which occurs equally in both sexes. BAD may occur in co morbidity with other mental diseases and disorders such as: Anorexia Nervosa, Bulimia Nervosa, Attention Deficit, Panic Disorder and Social Phobia. However, medical disorders (one or more) can also coexist with BAD. Metabolic syndrome is a combination of metabolic disorders that increase the risk of developing cardiovascular disease. A 61-year old female patient has been receiving continuous and systematic psychiatric treatment for Bipolar Affective Disorder for the last 39 years. The first episode was a depressive one and it occurred after a child delivery. Seventeen years ago the patient developed diabetes (diabetes type II), and twelve years ago arterial hypertension was diagnosed. High cholesterol and triglyceride levels as well as weight gain were objective findings. During the last nine years she has been treated for lower leg ulcer. Since metabolic syndrome includes abdominal obesity, hypertension, diabetes mellitus, increased cholesterol and serum triglyceride levels, the aforesaid patient can be diagnosed with Metabolic Syndrome. When treating Bipolar Affective Disorder, the antipsychotic drug choice should be careful and aware of its side-effects in order to avoid the development or aggravation of metabolic syndrome.

A functional analysis showed that a 14-year-old boy with Asperger syndrome displayed perseverative speech (or "restricted interests") reinforced by attention. To promote appropriate speech in a turn-taking format, we implemented differential reinforcement (DR) of nonperseverative speech and DR of on-topic speech within a multiple schedule with stimuli that signaled the contingencies in effect and who was to select the topic. Both treatments reduced perseverative speech, but only DR of on-topic speech increased appropriate turn taking during conversation. Treatment effects were maintained when implemented by family members and novel therapists.

Arthritis is one of the main manifestations of mixed connective tissue disease (MCTD) and overlap syndrome in children and can be responsible for functional disability. We report on 2 children with arthritis that were dramatically improved by a treatment with interleukin-6 (IL-6) blockers in the context of connective tissue disease. However, in both cases, other systemic autoimmune symptoms were not modified by the treatment and autoantibodies tend to increase, suggesting a differential effect of IL-6 inhibition on articular inflammation and systemic autoimmunity. PMID:27738519

The preparation of deproteinized hemoderivate, obtained from the calf blood, was used in complex of treatment of the patients, suffering the ischemic forms of the diabetic foot syndrome (DFS). The impact of treatment on a partial pressure of the oxygen (TcPO2) on the foot back was studied up. In noncritical ischemia of the lower extremities tissues there were established a trustworthy increase of TcPO2 in patients as well as a positive dynamics of the wounds healing. In a critical ischemia the results are heterogenous due to presence of coexistant factors, although a stable positive effect was noted.

Arthritis is one of the main manifestations of mixed connective tissue disease (MCTD) and overlap syndrome in children and can be responsible for functional disability. We report on 2 children with arthritis that were dramatically improved by a treatment with interleukin-6 (IL-6) blockers in the context of connective tissue disease. However, in both cases, other systemic autoimmune symptoms were not modified by the treatment and autoantibodies tend to increase, suggesting a differential effect of IL-6 inhibition on articular inflammation and systemic autoimmunity.

Opsoclonus-myoclonus syndrome (OMS) may be associated with ANNA-1 (anti-Hu) autoantibodies. The standard treatment with IVIG, steroids, and anti-CD20 monoclonal antibody may fail, and optimal therapy is unknown. A patient developed OMS with high-titer ANNA-1 following recovery from neuroblastoma. She failed standard therapy and had only transient response to rituximab. Treatment with the humanized anti-CD20 monoclonal antibody ofatumumab combined with methotrexate resulted in transient neurologic improvement and decrease of ANNA-1. This suggests that ofatumumab combined with methotrexate should further be considered OMS patients, particularly in refractory disease.

Williams-Beuren syndrome (WBS) is a rare genetic condition that affects approximately 1 in every 20,000 - 50,000 live births. WBS children have specific skeletal deformities, dental malformations and rare lingual muscle dysfunction. The need for orthodontic and orthognathic therapy has arisen and has been considered a real clinical challenge even for experienced professionals, once it requires a complex and individualized treatment plan. This study reports a case of orthopedic expansion of the maxilla, in which a modified facial mask was used for protraction of the maxillary complex associated with clockwise rotation of the maxilla. In addition, special considerations about treatment time and orthopedic outcomes are discussed.

Williams-Beuren syndrome (WBS) is a rare genetic condition that affects approximately 1 in every 20,000 - 50,000 live births. WBS children have specific skeletal deformities, dental malformations and rare lingual muscle dysfunction. The need for orthodontic and orthognathic therapy has arisen and has been considered a real clinical challenge even for experienced professionals, once it requires a complex and individualized treatment plan. This study reports a case of orthopedic expansion of the maxilla, in which a modified facial mask was used for protraction of the maxillary complex associated with clockwise rotation of the maxilla. In addition, special considerations about treatment time and orthopedic outcomes are discussed. PMID:25741831

Objectives To compare the effects of maintenance treatment with aripiprazole or placebo on the incidence of metabolic syndrome in bipolar disorder. Methods Patients with bipolar I disorder were stabilized on aripiprazole for 6–18 weeks prior to double-blind randomization to aripiprazole or placebo for 26 weeks. The rate of metabolic syndrome in each group was calculated at maintenance phase baseline (randomization) and endpoint for evaluable patients using an LOCF approach. Metabolic syndrome was defined using the National Cholesterol Education Program Adult Treatment Panel III criteria. Results At entry into the maintenance phase, overall 45/125 patients (36.0%) met criteria for metabolic syndrome. Mean changes in the five components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure and glucose) from baseline to Week 26 were small except for a meaningful reduction in triglycerides (placebo −18.9 mg/dL; aripiprazole −11.5 mg/dL). By the end of the maintenance phase (endpoint, LOCF), 5/18 placebo-treated patients (27.8%) and 4/14 aripiprazole-treated patients (28.6%) no longer met metabolic syndrome criteria. The proportion of patients with metabolic syndrome was similar in the placebo and aripiprazole groups both at baseline and Week 26. There were no significant changes in any of the individual components of metabolic syndrome between aripiprazole- and placebo-treated patients during maintenance phase treatment. Conclusions The prevalence of metabolic syndrome in patients with bipolar disorder is higher than commonly reported in the general population. The effect of 26 weeks of treatment with aripiprazole on the incidence of metabolic syndrome and its components was similar to placebo. PMID:20492838

AIM—To evaluate the efficacy of autologous serum application for the treatment of dry eye in Sjögren's syndrome. METHODS—The stability of essential components (EGF, vitamin A, and TGF-β) in preserved serum were examined following preservation at 4°C and −20°C. In a primary clinical trial, 12 patients with Sjögren's syndrome were treated with autologous serum (diluted to 20% with sterile saline) for 4 weeks, and vital staining of the ocular surface was compared before and after treatment. The effects of serum on mucin (MUC-1) expression were observed in cultured conjunctival epithelial cells in vitro. RESULTS—EGF, vitamin A, and TGF-β were well preserved for up to 1 month in the refrigerator at 4°C and up to 3 months in the freezer at −20°C. Rose bengal and fluorescein scores improved significantly from the initial scores of 5.3 and 5.6 to 1.7 and 2.5 after 4 weeks, respectively. The additive effect of human serum for cultured conjunctival epithelial cells showed significant MUC-1 upregulation on the cell surface. CONCLUSION—Autologous serum application is a safe and efficient way to provide essential components to the ocular surface in the treatment of dry eye associated with Sjögren's syndrome. Keywords: autologous serum; Sjögren's syndrome; tears ocular surface PMID:10434857

Background: Many of the patients with tethered cord syndrome (TCS) are admitted because of neurological symptoms, while some are admitted because of their orthopedic, urologic, anorectal, and dermatologic manifestations. Consequently, this study aimed to evaluate the importance of early diagnosis and treatment of tethered cord syndrome on patient outcome. Methods: Fourty-three patients who underwent surgery because of tethered cord syndrome from 2006 to 2010 were studied. Many of these cases were referred by orthopedic surgeons. All of the findings were recorded and follow up was done twice (1 and 3 years after surgery). Results: Thirty-seven patients were less than 7 years old and 6 were between 17 to 33 years old. According to clinical and neurological exams, satisfactory results were achieved in both groups. Those with early surgical intervention, especially in their early follow up assessment, had the best results. Seventeen cases were referred by an orthopedic surgeon because of manifestations such as leg weakness and numbness, leg pain and spasticity, pes cavus, claw toes, and leg or foot length discrepancy. Cerebrospinal fluid leakage occurred in 3 cases after surgery and 1 showed pseudomeningocele formation. Conclusions: After one year of follow up, initially the results of the treatment were better in early operated cases, but in later follow up assessment (after 3 years) the results were almost the same in both of the groups. PMID:25207325

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease) that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS. PMID:18686748

Tic disorders (TD), including chronic/persistent TD (CTD) and Tourette syndrome, have been described and studied for many years. Within the last two decades, intensified study efforts led to more specific assumptions about genesis and influences of both hereditary and environmental factors. TD in children and adolescents are very often accompanied by attention-deficit/hyperactivity disorders and obsessive-compulsive disorders (OCD) as comorbid disorders. Comorbidities are aggravating factors concerning prognosis and treatment opportunities. Therefore, etiological considerations and treatment strategies have to take associated psychiatric disorders into account. Treatment approaches are symptom targeted and include behavioral treatments and/or medication and show positive outcomes concerning tic symptomatology, global functioning, and associated psychopathology. This review presents an update of the research, definitions, and classification according to ICD-10 and DSM-5 and summarizes the diagnostic procedures and most effective clinical strategies.

Background Subacromial impingement syndrome (SIS) is the most frequently recorded shoulder disorder. When conservative treatment of SIS fails, a subacromial decompression is warranted. However, the best moment of referral for surgery is not well defined. Both early and late referrals have disadvantages – unnecessary operations and smaller improvements in shoulder function, respectively. This paper describes the design of a new interdisciplinary treatment strategy for SIS (TRANSIT), which comprises rules to treat SIS in primary care and a well-defined moment of referral for surgery. Methods/Design The effectiveness of an arthroscopic subacromial decompression versus usual medical care will be evaluated in a randomized controlled trial (RCT). Patients are eligible for inclusion when experiencing a recurrence of SIS within one year after a first episode of SIS which was successfully treated with a subacromial corticosteroid injection. After inclusion they will receive injection treatment again by their general practitioner. When, after this treatment, there is a second recurrence within a year post-injection, the participants will be randomized to either an arthroscopic subacromial decompression (intervention group) or continuation of usual medical care (control group). The latter will be performed by a general practitioner according to the Dutch National Guidelines for Shoulder Problems. At inclusion, at randomization and three, six and 12 months post-randomization an outcome assessment will take place. The primary outcome measure is the patient-reported Shoulder Disability Questionnaire. The secondary outcome measures include both disease-specific and generic measures, and an economic evaluation. Treatment effects will be compared for all measurement points by using a GLM repeated measures analyses. Discussion The rationale and design of an RCT comparing arthroscopic subacromial decompression with usual medical care for subacromial impingement syndrome are

The ketogenic diet is an evidence-based treatment for resistant epilepsy including Lennox-Gastaut syndrome. This diet is based on low carbohydrate-high fat intakes. Dietary treatment is also therapeutic for inborn errors of metabolism such as aminoacdiopathies. We report a child with both Lennox-Gastaut syndrome and tyrosinemia type 1. This epilepsy syndrome resulted form a porencephalic cyst secondary to brain abscesses that occurred during the management of malnutrition due to untreated tyrosinemia type 1. We used a ketogenic diet as treatment for Lennox-Gastaut syndrome taking into account dietary requirements for tyrosinemia type 1. The patient was transiently responder during a 6-month period. This report illustrates that ketogenic diet remains a therapeutic option even when additional dietary requirements are needed.

Carpal tunnel syndrome (CTS) is the commonest peripheral neuropathy presenting to specialist hand and wrist clinics. This study investigated the long-term outcome of carpal tunnel syndrome treated with isolated night wrist splint and the factors determining the likelihood of success of this intervention. Seventy-five patients referred to a specialist hand clinic with CTS were given night wrist splint treatment for 3 months as per a previous study protocol. Fifty-two patients from this cohort did not wish to have surgery after wrist splint treatment and were followed for a further 33-month period. Baseline pain and numbness levels were recorded on a Visual Analogue Scale (VAS) using a questionnaire upon first presentation. A further questionnaire at 36 months reassessed pain and numbness levels, patients' satisfaction with the treatment, and whether they had subsequent surgical decompression. Of the patients who completed the follow-up questionnaire 33 months after their period of conservative management, 43% were successfully treated with splint treatment alone. There was no difference in the VAS for pain or numbness at the baseline and at 36 months between successful and failed treatment groups. Patients successfully treated with wrist splinting alone reported a higher level of satisfaction with their treatment compared to patients who failed wrist splint treatment or had surgical decompression. The results reinforce the previous recommendation on wrist splinting as a first-line treatment in the Primary Care setting. Referral to specialist hand and wrist clinics should be reserved for patients with symptoms refractory to this initial measure.

Background: Kartagener syndrome (KS) is a rare congenital disease characterised by a clinical triad of symptoms: situs inversus, chronic rhinosinusitis, and bronchiectasis. Although congenital ciliary defect is recognised as the main cause of this syndrome, it remains difficult to treat the associated airway infection. Case Report: A 17-year-old female patient presented with repeated refractory airway infection. She also had bronchiectasis and situs inversus. Electron microscopic evaluation of her nasal mucosa revealed ciliary defect and confirmed the diagnosis of KS. She underwent functional endoscopic sinus surgery (FESS) followed by long-term postoperative debridement of the sinonasal cavity. This treatment reduced chronic rhinosinusitis and protected against subsequent airway infection in a 7-year follow-up. Conclusion: FESS is effective for relieving both chronic rhinosinusitis and lung infection of KS in the long term. PMID:25207108

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we developed a culture system using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts. RTT patients' iPSCs are able to undergo X-inactivation and generate functional neurons. Neurons derived from RTT-iPSCs had fewer synapses, reduced spine density, smaller soma size, altered calcium signaling and electrophysiological defects when compared to controls. Our data uncovered early alterations in developing human RTT neurons. Finally, we used RTT neurons to test the effects of drugs in rescuing synaptic defects. Our data provide evidence of an unexplored developmental window, before disease onset, in RTT syndrome where potential therapies could be successfully employed. Our model recapitulates early stages of a human neurodevelopmental disease and represents a promising cellular tool for drug screening, diagnosis and personalized treatment.

West syndrome (WS) is a rare, severe form of epilepsy that typically manifests early in infancy. It is considered a malignant condition that combines episodes of spasms that occur in clusters (infantile spasm), hypsarrhythmia on the electroencephalogram, and neuropsychomotor delay. Although WS has been widely investigated from a medical standpoint, few reports have focused on the oral findings in patients with this syndrome. This article reports the case history of a 7-year-old child diagnosed with WS. The major clinical features were generalized tooth wear and gingival enlargement, altered chronology and sequence of dental eruption, primary canine cusp-to-cusp relationship, ectopic dental eruption, and mildly arched palate. Multiple white spot lesions were also observed, possibly associated with poor oral hygiene, due to a fermentable carbohydrate-rich diet, and continuous use of sugar-containing medications. Dental care management of patients with special needs is discussed and the dental treatment for this child with WS is described.

Irritable bowel syndrome is a common functional gastrointestinal disorder with characteristic symptoms of abdominal pain/discomfort with a concurrent disturbance in defecation. It accounts for a significant healthcare burden, and symptoms may be debilitating for some patients. Traditional symptom-based therapies have been found to be ineffective in the treatment of the entire syndrome complex, and do not modify the natural history of the disorder. Although the exact etiopathogenesis of IBS is incompletely understood, recent advances in the elucidation of the pathophysiology and molecular mechanisms of IBS have resulted in the development of novel therapies, as well as potential future therapeutic targets. This article reviews current and emerging therapies in IBS based upon: IBS as a serotonergic disorder; stimulating intestinal chloride channels; modulation of visceral hypersensitivity; altering low-grade intestinal inflammation; and modulation of the gut microbiota.

The BREATHE-5 study demonstrated that bosentan, an oral endothelin receptor antagonist, provides clinical benefits in patients with Eisenmenger's syndrome. As a result, the European Medicines Agency (EMEA) approved its use for this indication. However, follow-up in that study was limited to 16 weeks and patients with complex congenital heart disease were excluded. We assessed the effect of long-term bosentan treatment in 10 patients with complex congenital heart disease and Eisenmenger's syndrome. In the mean clinical follow-up period of 25 months, all patients reached the target dose without developing side effects and without experiencing a change in arterial oxygen consumption at either rest or maximal exercise. Moreover, there were significant changes in clinical parameters: NYHA functional class improved from 3.3+/-0.7 to 2.5+/-0.9 (P=.002) and the 6-minute walk distance increased from 266+/-161 m to 347+/-133 m (P=.015).

Vismodegib hedgehog signaling inhibition treatment has potential for reducing the burden of multiple skin basal cell carcinomas and jaw keratocystic odontogenic tumors. They are major criteria for the diagnosis of Gorlin syndrome, also called nevoid basal cell carcinoma syndrome. Clinical features of Gorlin syndrome are reported, and the relevance of hedgehog signaling pathway inhibition by oral vismodegib for maxillofacial surgeons is highlighted. In summary, progressed basal cell carcinoma lesions are virtually inoperable. Keratocystic odontogenic tumors have an aggressive behavior including rapid growth and extension into adjacent tissues. Interestingly, nearly complete regression of multiple Gorlin syndrome-associated keratocystic odontogenic tumors following treatment with vismodegib. Due to radio-hypersensitivity in Gorlin syndrome, avoidance of treatment by radiotherapy is strongly recommended for all affected individuals. Vismodegib can help in those instances where radiation is contra-indicated, or the lesions are inoperable. The effect of vismodegib on basal cell carcinomas was associated with a significant decrease in hedgehog-signaling and tumor proliferation. Vismodegib, a new and approved drug for the treatment of advanced basal cell carcinoma, is a specific oncogene inhibitor. It also seems to be effective for treatment of keratocystic odontogenic tumors and basal cell carcinomas in Gorlin syndrome, rendering the surgical resections less challenging.

Background/Purpose. May-Thurner syndrome is an uncommon disease entity in which the left common iliac vein is compressed by the right common iliac artery with subsequent development of deep vein thrombosis and chronic venous insufficiency. We report our experience on the treatment of extensive iliofemoral deep venous thrombosis due to May-Thurner syndrome using endovascular techniques. Methods. The study group comprised 21 patients (8 men, 13 women; mean age 51 years) diagnosed with May-Thurner syndrome by venogram. Eighteen patients were treated with catheter-guided thrombolysis; 3 patients with short segment involvement did not require thrombolysis. After completion of the thrombolytic therapy, the residual venous narrowing was treated by balloon angioplasty and/or placement of a self-expandable stent. Results. The mean total dose of urokinase was 4.28 {+-} 1.89 million units, and the mean duration of infusion was 72 {+-} 35 hr. Eighteen of the 21 patients received stent deployment. The mean diameter of the stents was 12.9 {+-} 2.0 mm. Initial technical successes with immediate symptom resolution were achieved in 20 of the 21 patients (95%). We performed a follow-up venogram 6 months after procedure and checked clinical symptoms at outpatient clinics (mean follow-up duration 10.8 months). Among the patients who received stent implantation, 2 had recurrent thrombotic occlusion during the follow-up period. Three patients, who did not receive stent implantation, all had recurrent thrombosis. There were no major bleeding complications except in 1 patient who developed retroperitoneal hematoma. Conclusion. Catheter-guided thrombolysis and angioplasty with stent implantation is a safe and effective method for the treatment of May-Thurner syndrome.

This survey investigated the prevalence of ethnomedical syndromes and examined treatments and treatment-seeking in Mayan Guatemalans living in United Nations High Commissioner for Refugee (UNHCR) camps in Chiapas, Mexico. Methods included a rapid ethnographic assessment to refine survey methods and inform the cross-sectional survey, which also examined mental health outcomes; 183 households were approached for interview, representing an estimated 1,546 residents in five refugee camps and 93% of all households. One adult per household (N = 170) was interviewed regarding his or her health; an additional 9 adults in three surveyed households participated and were included in this analysis; of the 179 participants, 95 primary child-care providers also answered a children's health questionnaire for their children. Results indicated that ethnomedical syndromes were common in this sample, with 59% of adults and 48.4% of children having experienced susto (fright condition) and 34.1% of adults reporting ataques de nervios (nervous attacks); both conditions were significantly associated with symptoms consistent with posttraumatic stress disorder, anxiety and depression and are mental health conditions recognized by the American Psychiatric Association. Combining healthcare provider and indigenous treatments such as physician prescribed medication (65%), medicinal plants (65.7%), and limpias (spiritual cleansings) (40.6%) was reported. Most participants (86%) sought routine medical treatment from UNHCR trained health promoters in their camp. Assessing ethnomedical health is important for informing mental health programs among this population.

Cannabinoid hyperemesis syndrome (CHS) is a syndrome of cyclic vomiting associated with cannabis use. Our objective is to summarize the available evidence on CHS diagnosis, pathophysiology, and treatment. We performed a systematic review using MEDLINE, Ovid MEDLINE, Embase, Web of Science, and the Cochrane Library from January 2000 through September 24, 2015. Articles eligible for inclusion were evaluated using the Grading and Recommendations Assessment, Development, and Evaluation (GRADE) criteria. Data were abstracted from the articles and case reports and were combined in a cumulative synthesis. The frequency of identified diagnostic characteristics was calculated from the cumulative synthesis and evidence for pathophysiologic hypothesis as well as treatment options were evaluated using the GRADE criteria. The systematic search returned 2178 articles. After duplicates were removed, 1253 abstracts were reviewed and 183 were included. Fourteen diagnostic characteristics were identified, and the frequency of major characteristics was as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). The pathophysiology of CHS remains unclear with a dearth of research dedicated to investigating its underlying mechanism. Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. CHS is a cyclic vomiting syndrome, preceded by daily to weekly cannabis use, usually accompanied by symptom improvement with hot bathing, and resolution with cessation of cannabis. The pathophysiology underlying CHS is unclear. Cannabis cessation appears to be the best treatment.

The purpose of this study was to determine and compare the efficacy of kinesio tape and physical therapy modalities in patients with shoulder impingement syndrome. Patients (n = 55) were treated with kinesio tape (n = 30) three times by intervals of 3 days or a daily program of local modalities (n = 25) for 2 weeks. Response to treatment was evaluated with the Disability of Arm, Shoulder, and Hand scale. Patients were questioned for the night pain, daily pain, and pain with motion. Outcome measures except for the Disability of Arm, Shoulder, and Hand scale were assessed at baseline, first, and second weeks of the treatment. Disability of Arm, Shoulder, and Hand scale was evaluated only before and after the treatment. Disability of Arm, Shoulder, and Hand scale and visual analog scale scores decreased significantly in both treatment groups as compared with the baseline levels. The rest, night, and movement median pain scores of the kinesio taping (20, 40, and 50, respectively) group were statistically significantly lower (p values were 0.001, 0.01, and 0.001, respectively) at the first week examination as compared with the physical therapy group (50, 70, and 70, respectively). However, there was no significant difference in the same parameters between two groups at the second week (0.109, 0.07, and 0.218 for rest, night, and movement median pain scores, respectively). Disability of Arm, Shoulder, and Hand scale scores of the kinesio taping group were significantly lower at the second week as compared with the physical therapy group. No side effects were observed. Kinesio tape has been found to be more effective than the local modalities at the first week and was similarly effective at the second week of the treatment. Kinesio taping may be an alternative treatment option in the treatment of shoulder impingement syndrome especially when an immediate effect is needed.

Background Patellofemoral pain syndrome is a highly prevalent musculoskeletal overuse condition that has a significant impact on participation in daily and physical activities. A recent systematic review highlighted the lack of high quality evidence from randomised controlled trials for the conservative management of patellofemoral pain syndrome. Although foot orthoses are a commonly used intervention for patellofemoral pain syndrome, only two pilot studies with short term follow up have been conducted into their clinical efficacy. Methods/design A randomised single-blinded clinical trial will be conducted to investigate the clinical efficacy and cost effectiveness of foot orthoses in the management of patellofemoral pain syndrome. One hundred and seventy-six participants aged 18–40 with anterior or retropatellar knee pain of non-traumatic origin and at least six weeks duration will be recruited from the greater Brisbane area in Queensland, Australia through print, radio and television advertising. Suitable participants will be randomly allocated to receive either foot orthoses, flat insoles, physiotherapy or a combined intervention of foot orthoses and physiotherapy, and will attend six visits with a physiotherapist over a 6 week period. Outcome will be measured at 6, 12 and 52 weeks using primary outcome measures of usual and worst pain visual analogue scale, patient perceived treatment effect, perceived global effect, the Functional Index Questionnaire, and the Anterior Knee Pain Scale. Secondary outcome measures will include the Lower Extremity Functional Scale, McGill Pain Questionnaire, 36-Item Short-Form Health Survey, Hospital Anxiety and Depression Scale, Patient-Specific Functional Scale, Physical Activity Level in the Previous Week, pressure pain threshold and physical measures of step and squat tests. Cost-effectiveness analysis will be based on treatment effectiveness against resource usage recorded in treatment logs and self-reported diaries

Introduction Social factors play vital role in unfolding of alcohol use disorders in any given population. Several factors beyond the confines of treatment settings influence treatment outcome in alcohol dependence syndrome. Social support has positive effect in treatment outcome of alcohol dependence syndrome. This has not been much studied in India in past. Therefore we decided to study the perception of social support in cases of alcohol dependence syndrome admitted in a busy hospital in armed forces. Aim The aim was to study the perception of social support across relapsed and abstinent group and see if it reached any statistical proportion and also to see if any socio-demographic variables also affected perception of social support. Materials and Methods Fifty five consecutive male patients of alcohol dependent syndrome without a co-morbid neurological/psychiatric diagnosis were assessed for their perception of social support after taking informed consent. They were explained the procedure and their alcoholic milestones were recorded in specially designed pro-forma. Subjects were then divided in abstinent and relapsed group. Subsequently they were assessed for their perception of social support by administering Social provision scale and Social support questionnaire. Statistical Analysis Data were tabulated and statistically analysed by using chi square test, Mann Whitney U-Test and Rank ANOVA test where applicable p-value

Raynaud's syndrome has been treated medically and invasively, sometimes with regional anesthesia leading up to sympathectomy. We demonstrate that regional anesthesia was in this case a useful technique that can allow some patients to find temporary but significant relief from symptoms of Raynaud's syndrome exacerbation. We present a 43-year-old woman with Raynaud's syndrome secondary to lupus who was treated with bilateral popliteal nerve block catheters for ischemic pain and necrosis of her feet; this led to almost immediate resolution of her pain and return of color and function of her feet. While medical management should continue to be a front-line treatment for Raynaud's syndrome, regional anesthesia can be useful in providing rapid dissipation of symptoms and may thus serve as a viable option for short-term management of this syndrome.

Postural tachycardia syndrome is defined by a heart rate increment of 40 beats/minute (bpm) (or a heart rate that exceeds 125 bpm) within 10 minutes of change from the supine position to an upright position in the absence of obvious orthostatic hypotension. There are multiple pathophysiological mechanisms that underlie postural tachycardia syndrome, including peripheral denervation, β-receptor supersensitivity, hypovolaemia, and impaired muscle pump. Some children afflicted with postural orthostatic tachycardia syndrome and hypovolaemic dysregulation have been found to have perturbed renin-angiotensin-aldosterone profile, disturbed vascular endothelial function, and abnormal vasodilation. The hyperadrenergic state in some postural tachycardia syndrome patients is likely a driver for orthostatic tachycardia. Other mechanisms include the presence of treatable autonomic neuropathies. An understanding of these pathophysiological mechanisms might be helpful for the effective treatment of postural tachycardia syndrome.

Due to the complex anatomical and haemodynamic consequences of hypoplastic left heart syndrome (HLHS), patients with the condition require multistage surgical and supportive interventional treatment. Percutaneous interventions may be required between each stage of surgical palliation, sometimes simultaneously with surgery as hybrid interventions, or after completion of multistage treatment. Recent advances in the field of interventional cardiology, including new devices and techniques, have significantly contributed to improving results of multistage HLHS palliation. Knowledge of the potential interventional options as well as the limitation of percutaneous interventions will enable the creation of safe and effective treatment protocols in this highly challenging group of patients. In this comprehensive review we discuss the types, goals, and potential complications of transcatheter interventions in patients with HLHS. PMID:25489307

Weakness of neck extension causing a dropped head may result from many neuromuscular disorders. One etiology is isolated neck extensor myopathy. A similar focal myopathy of the lower axial muscles may cause the bent spine syndrome, which manifests as flexion of the trunk and inability to stand upright. Combination of both dropped head and bent spine myopathies is uncommon. Inflammation is usually not pronounced in these conditions and response to immunosuppressive treatment is rare. We present an 81-year-old man who developed progressive weakness of neck and trunk extension over several months, with a prominent inflammatory process in the thoracic paraspinal muscles, which responded dramatically to treatment with intravenous immunoglobulin (IVIg). This case, together with other rare reports, suggests that the presence of inflammation in the biopsy of an affected muscle may predict treatment response.

Irritable bowel syndrome (IBS) is a multifactorial condition with principal symptoms of pain and altered bowel function. The kappa-opioid agonist asimadoline is being evaluated in Phase III as a potential treatment for IBS. Asimadoline, to date, has shown a good safety profile and the target Phase III population – diarrhea-predominant IBS patients with at least moderate pain – was iteratively determined in a prospective manner from a Phase II dose-ranging study. The clinical data in support of this population are reviewed in this article. Furthermore, the scientific rationale for the use of asimadoline in the treatment of IBS is reviewed. Considering the high patient and societal burdens of IBS, new treatments for IBS represent therapeutic advances. PMID:22346361

Chronic tics (CT) are observed in 3-4% population, Tourette syndrome (TS) in 0.1-3.0%. In most cases, tic disorders start at age 2-15 years, but frequently they are diagnosed late. Clinical presentations of tics and comorbid disorders are various and depend on child's age. Difficulties in treatment of CT are associated with their persistence and those for TS with the fluctuating course of tics and probable onset of the disease in the form of behavioral disorders. Treatment of CT and TS is individual. Methods of behavioral and psychotherapy are recommended for a certain period of time if tics do not hamper everyday life. Increase in tick frequency and severity indicate the necessity of using pharmacological treatment. The European recommendations on pharmacotherapy of tic disorders and the drugs available in Russia are considered. Results of the studies on the efficacy of antiepileptic drugs and tenoten children in CT and TS are presented.

The treatments for non-deficit forms of carpal tunnel syndrome (CTS) are corticoid infiltration and/or a nighttime immobilization brace. Surgical treatment, which includes sectioning the retinaculum of the flexors (retinaculotomy), is indicated in cases of resistance to conservative treatment in deficit forms or, more frequently, in acute forms. In minimally invasive techniques (endoscopy and mini-open), and even though the learning curve is longer, it seems that functional recovery occurs earlier than in the classical surgery, but with identical long-term results. The choice depends on the surgeon, patient, severity, etiology and availability of material. The results are satisfactory in close to 90% of the cases. Recovery of strength requires four to six months after regression of the pain of pillar pain type. This surgery has the reputation of being benign and has a complication rate of 0.2–0.5%. PMID:26229842

Polycystic ovary syndrome (PCOS) is the most common cause of anovulatory infertility. Lifestyle change alone is considered the first-line treatment for the management of infertile anovulatory PCOS women who are overweight or obese. First-line medical ovulation induction therapy to improve fertility outcomes is clomiphene citrate, whilst gonadotrophins, laparoscopic ovarian surgery or possibly metformin are second line in clomiphene citrate-resistant PCOS women. There is currently insufficient evidence to recommend aromatase inhibitors over that of clomiphene citrate in infertile anovulatory PCOS women in general or specifically in therapy naive or clomiphene citrate-resistant PCOS women. IVF/ICSI treatment is recommended either as a third-line treatment or in the presence of other infertility factors.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies and surgical interventions, as well as directions for future therapies and treatment research. PMID:23042642

Chinese medicine (CM) has been used in the treatment of human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS) for 30 years and the demonstrated therapeutic effects of CM, such as reducing plasma HIV viral load, increasing CD4(+)T cell counts, promoting immunity reconstitution, ameliorating symptoms and signs, improving the health related quality of life (HRQOL) and counteracting against the effects of anti-retroviral drugs, were summarized and reviewed in this article. The authors point out that it had been a good opportunity to use CM for the treatment of HIV infection and AIDS in the past and also there are huge challenges ahead for CM research and clinicians to discover more effective CM and its underlying mechanisms for treatment of AIDS.

AIM To determine the placebo response rate associated with different types of placebo interventions used in psychological intervention studies for irritable bowel syndrome. METHODS Randomized controlled trials comparing psychological interventions (stress management/relaxation therapy (cognitive) behavioral therapy, short-term psychodynamic therapy, and hypnotherapy) for the treatment of adult patients with irritable bowel syndrome (IBS) diagnosed with the Manning or Rome criteria with an adequate placebo control treatment and reporting data on IBS symptom severity were identified by searching PubMed, Embase, the Cochrane Library, CINAHL and PsycINFO databases. Full-text articles that were written in English and published between 1966 and February 2016 in peer-reviewed journals were selected for the present review. Placebo interventions were considered to be adequate if the number of sessions and the amount of time spent with the therapist were the same as in the active treatment. The placebo response rate (PRR) was computed for IBS symptom severity (primary outcome measure) as well as for anxiety, depression and quality of life (secondary outcome measures). RESULTS Six studies, with a total of 555 patients met the inclusion criteria. Four studies used an educational intervention, whereas two studies used a form of supportive therapy as the placebo intervention. The PRR for IBS symptom severity ranged from 25% to 59%, with a pooled mean of 41.4%. The relative PRR for the secondary outcome measures ranged from 0% to 267% for anxiety, 6% to 52% for depression 20% to 125% for quality of life. The PRR associated with pharmacological treatments, treatment with dietary bran and complementary medicine ranged from 37.5% to 47%. Contrary to our expectations, the PRR in studies on psychological interventions was comparable to that in studies on pharmacological, dietary and alternative medical interventions. CONCLUSION The PRR is probably determined to a larger extent by

Climacteric syndrome refers to recurring symptoms such as hot flashes, chills, headache, irritability and depression. This is usually experienced by menopausal women and can be related to a hormonal reorganization in the hypothalamic-pituitary-gonadal axis. In Traditional Chinese Medicine, originating 1000s of years ago, above-mentioned symptoms can be interpreted on the basis of the philosophic diagnostic concepts, such as the imbalance of Yin and Yang, the Zang-Fu and Basic substances (e.g. Qi, Blood and Essence). These concepts postulate balance and harmonization as the principle aim of a treatment. In this context, it is not astounding that one of the most prominent ancient textbooks dating back to 500-200 BC, Huang di Neijing: The Yellow Emperor's Classic of Internal Medicine gives already first instructions for diagnosis and therapy of climacteric symptoms. For therapy, traditional Chinese medicine comprises five treatment principles: Chinese herbal medicine, TuiNa (a Chinese form of manual therapy), nutrition, activity (e.g. QiGong) and acupuncture (being the most widespread form of treatment used in Europe). This review provides an easy access to the concepts of traditional Chinese medicine particularly regarding to climacteric syndrome and also focuses on current scientific evidence.

BACKGROUND: Apraxia and Action Disorganisation Syndrome are characterised by an inability to use tools and carry out ordered sequences of movements in the absence of motor or sensory impairment. To date treatment for these complex but debilitating conditions has received little attention. OBJECTIVES: To provide an overview of apraxia and action disorganisation syndrome and its treatment, providing a state of the art summary for practitioners including likely future therapeutic directions. METHOD: Review of apraxia literature and treatment studies collated from internet searches involving MEDLINE, PubMed, PyscINFO and Google Scholar as well as the author’s own catalogue. RESULTS: Evidence for current restitution and compensatory approaches is critically reviewed, with limited evidence to date in support of either method. Strategy training is the most promising intervention type with no support for sensory and exploratory interventions, practice effects only for direct task-specific training, and modest support for gestural training. CONCLUSIONS: Larger controlled studies are needed but evidence is sufficient to indicate certain approaches over others. Advances in assistive technology have not translated into mainstream therapy but future interventions are likely to require a model-based approach which embraces current technologies in order to provide a more accessible, effective and cost-efficient approach to rehabilitation. PMID:27314872

Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease, characterized by lymphocytic infiltration of the secretory glands. This process leads to sicca syndrome, which is the combination of dryness of the eyes, oral cavity, pharynx, larynx and/or vagina. Extraglandular manifestations may also be prevalent in patients with pSS, including cutaneous, musculoskeletal, pulmonary, renal, hematological and neurological involvement. The pathogenesis of pSS is currently not well understood, but increased activation of B cells followed by immune complex formation and autoantibody production are thought to play important roles. pSS is diagnosed using the American-European consensus group (AECG) classification criteria which include subjective symptoms and objective tests such as histopathology and serology. The treatment of pSS warrants an organ based approach, for which local treatment (teardrops, moistures) and systemic therapy (including non-steroidal anti-inflammatory drugs (NSAIDs), glucocorticoids, disease-modifying antirheumatic drugs (DMARDS) and biologicals) can be considered. Biologicals used in the treatment of pSS mainly affect the total numbers of B cells (B cell depletion (Rituximab)) or target proteins required for B cell proliferation and/or activation (e.g. B cell activating factor (BAFF)) resulting in decreased B cell activity. The aim of this review is to provide physicians a general overview concerning the pathogenesis, diagnosis and management of pSS patients. PMID:28367079

Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease, characterized by lymphocytic infiltration of the secretory glands. This process leads to sicca syndrome, which is the combination of dryness of the eyes, oral cavity, pharynx, larynx and/or vagina. Extraglandular manifestations may also be prevalent in patients with pSS, including cutaneous, musculoskeletal, pulmonary, renal, hematological and neurological involvement. The pathogenesis of pSS is currently not well understood, but increased activation of B cells followed by immune complex formation and autoantibody production are thought to play important roles. pSS is diagnosed using the American-European consensus group (AECG) classification criteria which include subjective symptoms and objective tests such as histopathology and serology. The treatment of pSS warrants an organ based approach, for which local treatment (teardrops, moistures) and systemic therapy (including non-steroidal anti-inflammatory drugs (NSAIDs), glucocorticoids, disease-modifying antirheumatic drugs (DMARDS) and biologicals) can be considered. Biologicals used in the treatment of pSS mainly affect the total numbers of B cells (B cell depletion (Rituximab)) or target proteins required for B cell proliferation and/or activation (e.g. B cell activating factor (BAFF)) resulting in decreased B cell activity. The aim of this review is to provide physicians a general overview concerning the pathogenesis, diagnosis and management of pSS patients.

McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions-precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient.

Outbreaks of emerging infections present health professionals with the unique challenge of trying to select appropriate pharmacologic treatments in the clinic with little time available for drug testing and development. Typically, clinicians are left with general supportive care and often untested convalescent-phase plasma as available treatment options. Repurposing of approved pharmaceutical drugs for new indications presents an attractive alternative to clinicians, researchers, public health agencies, drug developers, and funding agencies. Given the development times and manufacturing requirements for new products, repurposing of existing drugs is likely the only solution for outbreaks due to emerging viruses. In the studies described here, a library of 290 compounds was screened for antiviral activity against Middle East respiratory syndrome coronavirus (MERS-CoV) and severe acute respiratory syndrome coronavirus (SARS-CoV). Selection of compounds for inclusion in the library was dependent on current or previous FDA approval or advanced clinical development. Some drugs that had a well-defined cellular pathway as target were included. In total, 27 compounds with activity against both MERS-CoV and SARS-CoV were identified. The compounds belong to 13 different classes of pharmaceuticals, including inhibitors of estrogen receptors used for cancer treatment and inhibitors of dopamine receptor used as antipsychotics. The drugs identified in these screens provide new targets for in vivo studies as well as incorporation into ongoing clinical studies. PMID:24841273

We present the case of a 28-year-old female Rett syndrome patient with low bone mass and a recent fracture who was successfully treated with teriparatide. Bone mineral density and microarchitecture substantially improved after treatment. Rett syndrome (RTT), an X-linked progressive neuro-developmental disorder caused by mutations in the methyl-CpG-binding 2 (MECP2) gene, has been consistently associated with low bone mass. Consequently, patients with RTT are at increased risk of skeletal fractures. Teriparatide is a bone-forming agent for the treatment of osteoporosis that has demonstrated its effectiveness in increasing bone strength and reducing the risk of fractures in postmenopausal women, but, recently, its positive action has also been reported in premenopausal women. We present the case of a 28-year-old female RTT patient with low bone mass and a recent fracture who was successfully treated with teriparatide. Both bone mass measured by DXA and microarchitecture assessed by high resolution peripheral computed tomography (HR pQCT) were substantially improved after treatment.

Purpose. The purpose of this study is to investigate whether double-row suture technique is a better option for the treatment of Haglund syndrome than single-row suture technique regarding the surgical outcomes. Methods. Thirty-two patients with Haglund syndrome were recruited in this study. Patients were divided into Group 1 (treated with single-row suture technique) and Group 2 (treated with double-row suture technique). There were 16 patients in each group. The AOFAS-ankle-hindfoot scale, VISA-A scores, and Arner-Lindholm standard were used to assess the clinical outcomes. The pre- and postoperative X-rays were used to assess the radiological outcome. Results. Both AOFAS-ankle-hindfoot scale score and VISA-A score had varying degrees of improvement in both groups. In latest follow-up assessment, the Arner-Lindholm standard investigation showed there were 7 excellent, 7 good, and 2 bad outcomes in Group 1 and 12 excellent and 4 good outcomes in Group 2. In Group 2 patients, there were no more posterosuperior bony prominence of the calcaneum in post-op X-rays and there were no recurrent cases. The ankle-related scale score was statistically significantly higher in Group 2 than in Group 1 (P = 0.029). Conclusion. The double-row suture technique seems to be a better option to treat Haglund syndrome than single-row suture technique.

Background The study was to review the clinical manifestations and laboratory examinations of ectopic adrenocorticotropic hormone (ACTH) syndrome, and to analyze the efficacy of surgical treatment. Methods The clinical data, surgical therapy, and outcome of 23 cases of ectopic ACTH syndrome accompanied by intra-thoracic tumors were reviewed. The tumors were removed from all the patients according to the principles of radical resection. Results The tumors were confirmed as associated with ectopic ACTH secretion in 19 cases. Hyperglycemia and hypokalemia were recovered, while plasma cortisol, plasma ACTH and 24-hour urinary free cortisol (UFC) levels were significantly reduced after surgery in these 19 cases. Recurrences of the disease were found in six cases during following-up, and five of them died. Conclusions The thoracic cavity should be a focus in routine examinations of patients with symptoms of Cushing’s syndrome (CS), because ectopic ACTH-producing tumors are commonly found in bronchus/lung and mediastinum. Despite the incidence of the pulmonary nodule secondary to opportunistic infection in some cases, surgery is still the first choice if the tumor is localized. The surgical procedure should be performed according to the principles in resection of lung cancer and mediastinal tumor. The surgical efficacy is significant for short-term periods; however, the recurrence of the disease in long-term periods is in great part related to distal metastasis or relapse of the tumor. PMID:27162663

In this paper, we review the experience with fenfluramine in epileptic and other paroxysmal disorders. Since the best available data are from the treatment of Dravet syndrome, we will focus primarily on this condition. Originally fenfluramine was launched as an anorectic agent. As early as 1985, seizure reduction in children could be demonstrated in a few cases with photosensitive, self-induced epilepsy. Hereafter, a small study was launched in patients with self-induced epilepsy. Results showed a significant seizure reduction, and review of the patient data showed that 5 of the 12 patients had Dravet syndrome. During that observation period, fenfluramine was withdrawn from the market because of cardiovascular side effects associated with prescribing higher doses in combination with phentermine for weight loss. In March 2002, a Belgian Royal Decree was issued permitting further study of fenfluramine in pediatric patients with intractable epilepsy. In 2011 under the Royal Decree, a prospective study of patients with Dravet syndrome treated with low-dose fenfluramine was initiated and is currently ongoing. The initial results are promising in terms of reduction of seizure frequency and overall tolerability. PMID:26600876

The prevalence of the metabolic syndrome in dialysis patients is high and further increases after transplantation due to weight gain and the detrimental metabolic effects of immunosuppressive drugs. Corticosteroids cause insulin resistance, hyperlipidemia, abnormal glucose metabolism and arterial hypertension. The calcineurin inhibitor tacrolimus is diabetogenic by inhibiting insulin secretion, whereas cyclosporine causes hypertension and increases cholesterol levels. Mtor antagonists are responsible for hyperlipidemia and abnormal glucose metabolism by mechanisms that also implicate insulin resistance. The metabolic syndrome in transplant recipients has numerous detrimental effects such as increasing the risk of new onset diabetes, cardiovascular disease events and patient death. In addition, it has also been linked with accelerated loss of graft function, proteinuria and ultimately graft loss. Prevention and management of the metabolic syndrome are based on increasing physical activity, promotion of weight loss and control of cardiovascular risk factors. Bariatric surgery before or after renal transplantation in patients with body mass index >35 kg/m(2) is an option but its long term effects on graft and patient survival have not been investigated. Steroid withdrawal and replacement of tacrolimus with cyclosporine facilitate control of diabetes, whereas replacement of cyclosporine and mtor antagonists can improve hyperlipidemia. The new costimulation inhibitor belatacept has potent immunosuppressive properties without metabolic adverse effects and will be an important component of immunosuppressive regimens with better metabolic risk profile. Medical treatment of cardiovascular risk factors has to take potential drug interactions with immunosuppressive medication and drug accumulation due to renal insufficiency into account.

Objective To evaluate the results and complications from surgical treatment of carpal tunnel syndrome by means of an open route, using a local anesthesia technique comprising use of a solution of lidocaine, epinephrine and sodium bicarbonate. Material and methods This was a cohort study conducted through evaluating the medical files of 16 patients who underwent open surgery to treat carpal tunnel syndrome, with use of local anesthesia consisting of 20 mL of 1% lidocaine, adrenaline at 1:100,000 and 2 mL of sodium bicarbonate. The DASH scores before the operation and six months after the operation were evaluated. Comparisons were made regarding the intensity of pain at the time of applying the anesthetic and during the surgical procedure, and in relation to other types of procedure. Results The DASH score improved from 65.17 to 16.53 six months after the operation (p syndrome is effective for performing the procedure and for the final result. PMID:26962490

Sjogren's syndrome (SS) is a systemic, autoimmune disorder characterized by salivary insufficiency and lymphocytic infiltration of the exocrine glands. Even though the mechanism of its pathology and progression has been researched ever since its discovery, the roles of different parts of immune system remain inconclusive. There is no straightforward and simple theory for the pathogenesis and diagnosis of Sjogren's syndrome because of the multiple kinds and functions of autoantibodies, changing proportion of different T-lymphocyte subsets with the progression of disease, unsuspected abilities of B lymphocytes discovered recently, crosstalk between cytokines connecting the factors mentioned previously, and genetic predisposition that contributes to the initiation of this disease. On the other hand, the number of significant reports and open-label studies of B-cell depletion therapy showing clinical efficacy in sjogren's syndrome has continued to accumulate, which provides a promising future for the patients. In a word, further elucidation of the role of different components of the immune system will open avenues for better diagnosis and treatment of SS, whose current management is still mainly supportive. PMID:23935646

Purpose. The purpose of this study is to investigate whether double-row suture technique is a better option for the treatment of Haglund syndrome than single-row suture technique regarding the surgical outcomes. Methods. Thirty-two patients with Haglund syndrome were recruited in this study. Patients were divided into Group 1 (treated with single-row suture technique) and Group 2 (treated with double-row suture technique). There were 16 patients in each group. The AOFAS-ankle-hindfoot scale, VISA-A scores, and Arner-Lindholm standard were used to assess the clinical outcomes. The pre- and postoperative X-rays were used to assess the radiological outcome. Results. Both AOFAS-ankle-hindfoot scale score and VISA-A score had varying degrees of improvement in both groups. In latest follow-up assessment, the Arner-Lindholm standard investigation showed there were 7 excellent, 7 good, and 2 bad outcomes in Group 1 and 12 excellent and 4 good outcomes in Group 2. In Group 2 patients, there were no more posterosuperior bony prominence of the calcaneum in post-op X-rays and there were no recurrent cases. The ankle-related scale score was statistically significantly higher in Group 2 than in Group 1 (P = 0.029). Conclusion. The double-row suture technique seems to be a better option to treat Haglund syndrome than single-row suture technique. PMID:28078282

The use of metallic stents in the management of benign and malignant superior vena cava syndrome (SVCS) is well documented. Symptomatic stenosis or occlusion of the SVC is a rare complication of a transvenous permanent pacemaker implant. Suggested treatments have included anticoagulation therapy, thrombolysis, balloon angioplasty and surgery. More recently, endovascular stenting has evolved as an attractive alternative but the data available in the literature are limited. We describe a case in which venous stenting with a Wallstent endoprosthesis was used successfully. The patient remains symptom free and with normal pacemaker function 36 months later.

Meconium aspiration syndrome (MAS) is a major cause of respiratory insufficiency in the term and post-term newborns. There are several pathomechanisms participating in this disorder, particularly the airway obstruction, surfactant dysfunction, inflammation, lung edema, pulmonary vasoconstriction and bronchoconstriction. Inflammatory changes resulting from meconium aspiration cause severe impairment of lung parenchyma and surfactant, and influence the reactivity of both vascular and airway smooth muscle. Therefore, anti-inflammatory drugs may be of benefit in the management of MAS. This article reviews the pharmacological actions and side effects of various anti-inflammatory drugs used up to now in the experimental models of MAS and in the treatment of newborns with meconium aspiration.

Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder characterized by multiple rib abnormalities, micrognathia described as Pierre-Robin sequence, and cerebral involvement. Appropriate management of respiratory distress immediately after birth is crucial to rescue these patients. A boy, having a mother with Pierre-Robin sequence and a sister with CCMS, was diagnosed prenatally with CCMS and successfully treated with ex utero intrapartum treatment (EXIT) at 36 weeks 6 days of gestation. EXIT would be an effective option for rescuing patients with prenatally diagnosed CCMS and preventing neonatal hypoxia.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.

A 62-year-old white man with a 10-year history of treatment-refractory Sweet's syndrome was admitted to the hospital with the onset of purpuric lesions. Methylprednisolone and infliximab were administered. Our patient developed disseminated Nocardia infection and eventually succumbed. Opportunistic infections such as Nocardia have been associated with infliximab and other tumour necrosis factor (TNF)-α inhibitors. The astute clinician should be aware of the risk of rare opportunistic infections, particularly in patients on TNF-α inhibitors and systemic corticosteroids.

Extracorporeal photopheresis (ECP) is an immunomodulating procedure that leads to an expansion of peripheral blood dendritic cell populations and an enhanced TH1 immune response in cutaneous T-cell lymphoma (CTCL). Because of its excellent side effect profile and moderate efficacy, ECP is considered first-line therapy for erythrodermic mycosis fungoides (MF) and Sézary syndrome. Patients with a measurable but low blood tumor burden are most likely to respond to ECP, and the addition of adjunctive immunostimulatory agents may also increase response rates. There may be a role for ECP in the treatment of refractory early stage MF, but data are limited.

Hydrogen is the most abundant chemical element in the universe, however, it is seldom regarded as a therapeutic gas. Recent studies show that inhaled hydrogen gas (H(2)) has antioxidant and antiapoptotic activities that protect the brain against ischemia-reperfusion injury and stroke by selectively reducing hydroxyl and peroxynitrite radicals. It is also well known that more than a half of the ionizing radiation-induced cellular damage is caused by hydroxyl radicals. Studies have show that reducing hydroxyl radicals can significantly improve the protection of cells from radiation damage. In like manner, we hypothesize that hydrogen therapy may be an effective, specific and unique treatment for acute radiation syndrome.

Acquired immune deficiency syndrome (AIDS) is a new disease which has recently alerted the medical world. AIDS may also concern dental practitioners and oral surgeons who may be the first to suspect impairment of immunity in patients presenting opportunistic oral infections. Extraordinary resistance to treatment of dental infections, such as encountered in a 27-year-old man developing AIDS, could also be a sign of immunodepression. Epidemiological features of AIDS indicate transmissibility, and interim recommendations for prevention of spread correspond to the measures appropriate for hepatitis B.

Structural and functional abnormalities of the prefrontal cortex seem to correlate with fatigue in patients with chronic fatigue syndrome (CFS). We consecutively applied facilitatory high-frequency repetitive transcranial magnetic stimulation (rTMS) to the dorsolateral prefrontal cortex (DLPFC) of seven CFS patients over three days. Five patients completed the 3-day protocol without any adverse events. For the other two patients, we had to reduce the stimulation intensity in response to mild adverse reactions. In most of the patients, treatment resulted in an improvement of fatigue symptoms. High-frequency rTMS applied over the DLPFC can therefore be a potentially useful therapy for CFS patients. PMID:27904120

Obstructive sleep apnea syndrome (OSAS) is a common, under-recognized condition in childhood with significant morbidities if undiagnosed and untreated. The American Academy of Pediatrics recently issued a clinical practice guideline for the diagnosis and management of childhood OSAS. It was accompanied by a comprehensive evidence-based technical report that summarized the available literature supporting the guideline. The current review highlights areas of controversy and uncertainty that limit the development of more definitive standards of practice, updates the reader to several newer publications relevant to diagnosis and treatment of childhood OSAS, and identifies future directions for clinical research.

Atypical hemolytic uremic syndrome is a rare thrombotic microangiopathy caused by chronic defective regulation of the complement activation. This activation results in systemic endothelial damage leading to renal failure. Eculizumab, an anti-C5 antibody, is effective in limiting complement activation in patients with aHUS and has recently came out as a therapeutic option for aHUS. Here we present a case showing that first-line eculizumab treatment successfully prevents the induction of the terminal complement cascade and blocked the progression of thrombotic microangiopathy in aHUS.

Medically unexplained symptoms and chronic functional syndromes are common but few health care professionals have had formal training about their connection to psychosocial issues. A systematic approach to diagnosis and treatment is described that is based on published evidence and detailed interviews with more than 7,000 of these patients. This approach is designed to meet the needs of primary care teams using techniques for assessing and treating current life stresses, the prolonged impact of adversity in childhood and somatic presentations of depression, posttraumatic stress, and anxiety disorders. (PsycINFO Database Record

Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%). Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT) resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients.

Gastric surgery has long been known to be a cause of dumping syndrome (DS). However, the increasing incidence of gastric bypass surgery, as well as reports of DS unrelated to previous gastric surgeries, has increased the importance of understanding DS in recent years. DS is due to the gastrointestinal response to voluminous and hyperosmolar chyme that is rapidly expelled from the stomach into the small intestine. This response involves neural and hormonal mechanisms. This review encompasses the symptoms, diagnosis, and treatment approaches of DS and also focuses on the current research status of the pathophysiology of DS.

Dumping syndrome (DS) is a complication of Nissen fundoplication. Dietary strategies can ameliorate symptoms, but this approach is not always foolproof. Limited evidence reports the efficacy of acarbose for children who are unresponsive to feeding manipulations. We report 8 patients with DS aged between 7 and 24 months. In 4 of 8 nutritional strategies failed, and acarbose treatment was started. The initial dose was 25 mg for meals, and increased until postprandial glucose was stable. In 3 of 4 children the final dose was higher than previously reported, without adverse effects. Acarbose is useful to treat DS in cases of failure of dietary strategies.

Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%). Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT) resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients. PMID:28251008

We report an unusual case of a 65-year-old lady with CREST syndrome with multiple upper and lower limb calcinosis, who presented with severe shoulder pain and stiffness, with widespread intra- and extra-articular calcinosis, which was refractory to conservative measures. We were able to identify the main cause of her symptoms through serial diagnostic injections as calcific biceps tendinosis. We will discuss her assessment and surgical management and the pathophysiology and various treatment modalities for managing the soft tissue calcinosis in rheumatological diseases. PMID:27437158

We report the case of a 17 year old male patient, who was admitted to the Resuscitation Unit with the diagnosis of hemophagocytic syndrome, associated with infection by Epstein-Barr virus with unfavorable outcome. Hemophagocytic syndrome is a pathological immune activation syndrome due to the production/uncontrolled modulation of some cytokines. Its clinical signs and symptoms, defined by consensus criteria HLH-2004, are not pathognomonic, and often appear sequentially, thus suspicion should be followed by aggressive supportive therapy combined with early specific treatment of the triggering factor, as it is the only way to improve survival in patients with multiple organic failure as a result.

Although the major mechanism of complex regional pain syndrome (CRPS) involves dysfunctional central or sympathetic nervous system activation, the peripheral nervous system also contributes significantly to its clinical manifestations. Pulsed radiofrequency (PRF) is a recently developed treatment option for neuropathic pain syndromes. Here, we report a case of CRPS Type II after a femur fracture and sciatic nerve injury, in which the pain was treated successfully with ultrasonography-guided selective sciatic nerve PRF application. PMID:28217060

Vascular stenosis is a relatively uncommon and often fatal sequela of mediastinal fibrosis. There are very few reports in the medical literature of endovascular treatment for concomitant bilateral pulmonary artery stenoses and superior vena cava syndrome. We report the endovascular treatment of these conditions in a 54-year-old man, and the long-term outcome. PMID:27303243

Despite Asperger's Syndrome (AS) becoming a widely recognized disorder on the pervasive developmental spectrum, surprisingly few studies have assessed the utility of psychosocial and/or pharmacological treatments for children with AS. Further, studies have not examined the effects of treatment on disruptive behavior problems commonly exhibited by…

In the PubMed accessible literature, information on the characteristics of interdisciplinary orthodontic and surgical treatment of patients with Apert syndrome is rare. The aim of the present article is threefold: (1) to show the spectrum of the phenotype, in order (2) to elucidate the scope of hindrances to orthodontic treatment, and (3) to demonstrate the problems of surgery and interdisciplinary approach. Children and adolescents who were born in 1985 or later, who were diagnosed with Apert syndrome, and who sought consultation or treatment at the Departments of Orthodontics or Craniomaxillofacial Surgery at the Dental School of the University Hospital of Münster (n = 22; 9 male, 13 female) were screened. Exemplarily, three of these patients (2 male, 1 female), seeking interdisciplinary (both orthodontic and surgical treatment) are presented. Orthodontic treatment before surgery was performed by one experienced orthodontist (AH), and orthognathic surgery was performed by one experienced surgeon (UJ), who diagnosed the syndrome according to the criteria listed in OMIM™. In the sagittal plane, the patients suffered from a mild to a very severe Angle Class III malocclusion, which was sometimes compensated by the inclination of the lower incisors; in the vertical dimension from an open bite; and transversally from a single tooth in crossbite to a circular crossbite. All patients showed dentitio tarda, some impaction, partial eruption, idopathic root resorption, transposition or other aberrations in the position of the tooth germs, and severe crowding, with sometimes parallel molar tooth buds in each quarter of the upper jaw. Because of the severity of malocclusion, orthodontic treatment needed to be performed with fixed appliances, and mainly with superelastic wires. The therapy was hampered with respect to positioning of bands and brackets because of incomplete tooth eruption, dense gingiva, and mucopolysaccharide ridges. Some teeth did not move, or moved

Objectives To examine clinical outcomes of an interdisciplinary day hospital treatment program (comprised of physical, occupational, and cognitive-behavioral therapies with medical and nursing services) for pediatric complex regional pain syndrome (CRPS). Methods The study is a longitudinal case series of consecutive patients treated in a day hospital pediatric pain rehabilitation program. Participants were 56 children and adolescents ages 8–18 years (median = 14 years) with CRPS spectrum conditions who failed to progress sufficiently with a previous outpatient and/or inpatient treatments. Patients participated in daily physical therapy, occupational therapy and psychological treatment and received nursing and medical care as necessary. The model places equal emphasis on physical and cognitive-behavioral approaches to pain management. Median duration of stay was 3 weeks. Outcome measures included assessments of physical, occupational, and psychological functioning at program admission, discharge, and at post-treatment follow-up at a median of 10 months post-discharge. Scores at discharge and follow-up were compared with measures on admission by Wilcoxon tests, paired t tests, or ANOVA as appropriate, with corrections for multiple comparisons. Results Outcomes demonstrate clinically and statistically significant improvements from admission to discharge in pain intensity (p<0.001), functional disability (p<0.001), subjective report of limb function (p<0.001), timed running (p<0.001) occupational performance (p<0.001), medication use (p<0.01), use of assistive devices (p<0.001), and emotional functioning (anxiety, p<0.001; depression, p<0.01). Functional gains were maintained or further improved at follow-up. Discussion A day-hospital interdisciplinary rehabilitation approach appears effective in reducing disability and improving physical and emotional functioning and occupational performance among children and adolescents with complex regional pain syndromes that

5q-syndrome is a special subgroup of myelodysplastic syndrome in terms of follow-up and treatment. Lenalidomide is an immunomodulatory drug that is frequently used in the treatment of multiple myeloma. Some clinical studies have shown that lenalidomide treatment is effective in 5q syndrome and significantly decreases the transfusion dependency in these patients. In this paper, we would like to share a dramatic response of lowered transfusion dependency after treatment with low-dose lenalidomide in a patient who received myelodysplastic syndrome diagnosis and isolated 5q anomaly in our clinic.

5q-syndrome is a special subgroup of myelodysplastic syndrome in terms of follow-up and treatment. Lenalidomide is an immunomodulatory drug that is frequently used in the treatment of multiple myeloma. Some clinical studies have shown that lenalidomide treatment is effective in 5q syndrome and significantly decreases the transfusion dependency in these patients. In this paper, we would like to share a dramatic response of lowered transfusion dependency after treatment with low-dose lenalidomide in a patient who received myelodysplastic syndrome diagnosis and isolated 5q anomaly in our clinic. PMID:28058331